46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.
In this report the authors describe an 8-year-old severely mentally retarded girl with facial features resembling the facial dysmorphism seen in patients with Alagille-Watson syndrome, severe growth retardation and a 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism in fibroblasts.
Fryns
J P
JP
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Kleczkowska
A
A
Decock
P
P
Massa
G
G
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D016738:Alagille Syndrome / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D004827:Epilepsy / Q000151:congenital / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009030:Mosaicism; D013577:Syndrome