| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. |
Associated morphology |
False |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Partial tetrasomy of chromosome 9 (disorder) |
Associated morphology |
False |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Tetrasomy 12p syndrome (disorder) |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy of short arm of chromosome 9 (disorder) |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Hematological malignancies are also associated and may occur earlier than in trisomy 21. |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy 5p mosaicism |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Tetrasomy 15q (disorder) |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy 18p |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy 18p |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Tetrasomy of short arm of chromosome 9 (disorder) |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Partial tetrasomy of chromosome 9 (disorder) |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy 15q (disorder) |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures. |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetrasomy 12p syndrome (disorder) |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. |
Associated morphology |
True |
Tetrasomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
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