Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother

J P Fryns; E Smeets; K Devriendt; P Petit

Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother

Ann Genet. 1998;41(2):73-6.

Authors

J P Fryns¹, E Smeets, K Devriendt, P Petit

Affiliation

¹ Center for Human Genetics, U.Z. Gasthuisberg, University of Leuven, Belgium.

PMID: 9706336

Abstract

We present here a 6-year-old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only after FISH studies the suspected 4p16.3 deletion could be confirmed. FISH studies in the mother showed that she was carrier of a balanced/unbalanced mosaicism with a 4p/16p translocation in 60% of the cells, and 4p16.3 deletion in 40% of the cells.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Child
Chromosome Deletion*
Chromosomes, Human, Pair 4*
Craniofacial Abnormalities / genetics
Family Health
Female
Humans
Karyotyping
Mosaicism*
Mothers
Psychomotor Performance / physiology
Syndrome