distal monosomy 9p
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
MONDO:0008013
chromosome 9p deletion syndrome
is_a
MONDO:0020040
46 XY differences of sex development
is_a
distal deletion 9p
exact
distal monosomy type 9p
exact
monosomy 9pter
exact
telomeric deletion 9p
exact