Distal monosomy 7q36
Synonyms: Distal deletion 7q36 | Monosomy 7qter | Telomeric deletion 7q36
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 (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Distal monosomy 7q36?
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