Trisomi 13q
Også kjent som: Distal trisomy 13q
Engelsk navn: Distal duplication 13q
Engelske synonym: Distal trisomy 13q,Telomeric duplication 13q,Trisomy 13qter
Definisjon
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.
Fra Orphanet
ORPHA: 96105
Klassifiseringsnivå: Disorder
ICD-10: Q92.3
