Distal deletion 17q
Synonyms: Distal monosomy 17q | Monosomy 17qter | Telomeric deletion 17q
A partial deletion of the long arm of chromosome 17 characterized by hypotonia growth delay severe global developmental delay microcephaly seizures congenital heart anomalies hand and foot anomalies (syndactyly symphalangism) and dysmorphic facial features including round face hypertelorism upslanting palpebral fissures and micrognathia. Reported deletions involve regions 17q21-q24.
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 October 2023.
Newly diagnosed with
Distal deletion 17q?
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