Distal monosomy 13q
Engelsk navn: Distal deletion 13q
Engelske synonym: 13q32 deletion,Deletion 13q32,Distal monosomy 13q,Monosomy 13q32,Telomeric deletion 13q
Definisjon
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
Fra Orphanet
ORPHA: 1590
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
