46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit

J P Fryns; A Kleczkowska; P Decock; G Massa; H van den Berghe

46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit

Ann Genet. 1992;35(4):234-6.

Authors

J P Fryns¹, A Kleczkowska, P Decock, G Massa, H van den Berghe

Affiliation

¹ Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.

PMID: 1296522

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Alagille Syndrome / genetics
Child
Chromosome Deletion*
Chromosomes, Human, Pair 20*
Epilepsy / congenital
Epilepsy / genetics
Face / abnormalities
Female
Fibroblasts / ultrastructure*
Growth Disorders / genetics*
Humans
Intellectual Disability / genetics
Mosaicism*
Syndrome