3q13 mikrodelesjon
Også kjent som: 3q13 microdeletion syndrome
Engelsk navn: 3q13 microdeletion syndrome
Engelske synonym: Del(3)(q13),Monosomy 3q13
Definisjon
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
Fra Orphanet
ORPHA: 1621
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
