distal monosomy 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.
MONDO:0016906
partial deletion of the long arm of chromosome 7
is_a
distal deletion 7q36
exact
distal monosomy type 7q36
exact
monosomy 7qter
exact
telomeric deletion 7q36
exact