Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example.
Another example of del (17)(p11.2) in a 3-year-old boy with psychomotor retardation, broad face, midface hypoplasia, prognathism, and behavioural anomalies was diagnosed clinically and confirmed by prometaphase analysis. It seems that this new microdeletion syndrome may not be so rare.
de Almeida
J C
JC
Unidade de Citogenética Médica do Instituto de Biofísica Carlos Chagas Filho (UFRJ), CCS Bloco G. Cidade Universitària Ilha do Fundáo, Rio de Janeiro, Brasil.
Reis
D F
DF
Martins
R R
RR
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001321:Autistic Disorder / Q000235:genetics*; D002386:Cataract / Q000151:congenital; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D013577:Syndrome