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312242007: Long arm of chromosome (cell structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
455922015 Long arm of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1187861014 Long arm of chromosome (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Long arm of chromosome Is a Chromosome structure true Inferred relationship Some
Long arm of chromosome partie de Cell false Inferred relationship Some
Long arm of chromosome partie de Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deletion of long arm of chromosome 19 (disorder) Finding site False Long arm of chromosome Inferred relationship Some 2
Partial trisomy of long arm of chromosome 5 Finding site True Long arm of chromosome Inferred relationship Some 3
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Finding site True Long arm of chromosome Inferred relationship Some 2
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). Finding site True Long arm of chromosome Inferred relationship Some 2
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. Finding site True Long arm of chromosome Inferred relationship Some 1
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. Finding site True Long arm of chromosome Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported. Finding site True Long arm of chromosome Inferred relationship Some 2
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Finding site False Long arm of chromosome Inferred relationship Some 1
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). Finding site True Long arm of chromosome Inferred relationship Some 1
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site True Long arm of chromosome Inferred relationship Some 2
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. Finding site False Long arm of chromosome Inferred relationship Some 2
1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. Finding site True Long arm of chromosome Inferred relationship Some 1
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. Finding site False Long arm of chromosome Inferred relationship Some 2
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). Finding site True Long arm of chromosome Inferred relationship Some 1
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Finding site False Long arm of chromosome Inferred relationship Some 2
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Finding site True Long arm of chromosome Inferred relationship Some 2
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. Finding site False Long arm of chromosome Inferred relationship Some 2
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. Finding site False Long arm of chromosome Inferred relationship Some 2
A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. Finding site True Long arm of chromosome Inferred relationship Some 1
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. Finding site True Long arm of chromosome Inferred relationship Some 1
7q partial monosomy Finding site True Long arm of chromosome Inferred relationship Some 2
A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. Finding site True Long arm of chromosome Inferred relationship Some 2
A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. Finding site True Long arm of chromosome Inferred relationship Some 1
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Finding site False Long arm of chromosome Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Finding site True Long arm of chromosome Inferred relationship Some 1
Williams syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
17q24-qter duplication syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
Distal trisomy 12q (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Distal trisomy 1q (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Finding site True Long arm of chromosome Inferred relationship Some 3
Distal trisomy 7q (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Distal trisomy 3q (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Paternal 14q32.2 microdeletion (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Medial deletion of long arm of chromosome 1 Finding site True Long arm of chromosome Inferred relationship Some 2
Medial deletion of long arm of chromosome 9 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Medial deletion of long arm of chromosome 7 (disorder) Finding site False Long arm of chromosome Inferred relationship Some 2
Medial deletion of long arm of chromosome 7 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 3
Medial duplication of long arm of chromosome 2 Finding site True Long arm of chromosome Inferred relationship Some 2
Medial duplication of long arm of chromosome 4 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 Finding site False Long arm of chromosome Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 Finding site True Long arm of chromosome Inferred relationship Some 3
Medial duplication of long arm of chromosome 7 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Medial duplication of long arm of chromosome 9 Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 6 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal duplication of long arm of chromosome 5 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 4 Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal duplication of long arm of chromosome 3 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 18 Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 2 Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 17 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal duplication of long arm of chromosome 16 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal duplication of long arm of chromosome 10 Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal duplication of long arm of chromosome 12 Finding site True Long arm of chromosome Inferred relationship Some 2
Mosaic 1q duplication Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 11 Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 9 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal duplication of long arm of chromosome 7 Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal duplication of long arm of chromosome 8 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 3
Proximal duplication of long arm of chromosome 1 Finding site True Long arm of chromosome Inferred relationship Some 1
7q partial trisomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
10q partial monosomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. Finding site True Long arm of chromosome Inferred relationship Some 3
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. Finding site True Long arm of chromosome Inferred relationship Some 3
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. Finding site True Long arm of chromosome Inferred relationship Some 1
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. Finding site True Long arm of chromosome Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 3
Proximal deletion of long arm of chromosome 10 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. Finding site True Long arm of chromosome Inferred relationship Some 2
1q partial monosomy Finding site True Long arm of chromosome Inferred relationship Some 2
1q21.1 microdeletion Finding site True Long arm of chromosome Inferred relationship Some 1
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Finding site True Long arm of chromosome Inferred relationship Some 1
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Finding site True Long arm of chromosome Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
22q partial monosomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Finding site True Long arm of chromosome Inferred relationship Some 1
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumors. Most deletions are de novo. Finding site True Long arm of chromosome Inferred relationship Some 1
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Finding site True Long arm of chromosome Inferred relationship Some 1
22q partial trisomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (including microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip and/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. Finding site True Long arm of chromosome Inferred relationship Some 1
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent. Finding site True Long arm of chromosome Inferred relationship Some 1
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Finding site True Long arm of chromosome Inferred relationship Some 1
21q partial trisomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
21q partial distal trisomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. Finding site True Long arm of chromosome Inferred relationship Some 2
Deletion of part of long arm of chromosome 20 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. Finding site True Long arm of chromosome Inferred relationship Some 2
Monosomie 14q, distale Finding site False Long arm of chromosome Inferred relationship Some 2
20q partial trisomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. Finding site True Long arm of chromosome Inferred relationship Some 2
Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. Finding site True Long arm of chromosome Inferred relationship Some 2
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. Finding site True Long arm of chromosome Inferred relationship Some 1
14q partial trisomy (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Finding site True Long arm of chromosome Inferred relationship Some 1
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. Finding site True Long arm of chromosome Inferred relationship Some 1
Partial deletion of long arm of chromosome 14 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Finding site True Long arm of chromosome Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Finding site True Long arm of chromosome Inferred relationship Some 1

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