Distal duplication 16q
Synonyms: Distal trisomy 16q | Telomeric duplication 16q | Trisomy 16qter
Distal trisomy 16q is a rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 16 with variable phenotype principally characterized by developmental delay severe intellectual disability hypotonia facial dysmorphism (incl. high prominent forehead epicanthic folds dysplastic ears broad/depressed nasal bridge malar hypoplasia narrow and arched palate thin upper lip vermilion micrognathia) and hand/feet anomalies (e.g. arachnodactyly talipes equinovarus). Cardiac defects genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Distal duplication 16q?
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