Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
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.
Center for Human Genetics, U.Z. Gasthuisberg, University of Leuven, Belgium.
J P
JP
Fryns
E
E
Smeets
K
K
Devriendt
P
P
Petit
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D019465:Craniofacial Abnormalities / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D009035:Mothers; D011597:Psychomotor Performance / Q000502:physiology; D013577:Syndrome