el-Rifai W, Leisti J, Kähkönen M, Pietarinen A, Altherr MR, Knuutila S
J Med Genet. 1995 32 (1)
· PMCID: PMC1050183
We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).
MeSH Terms (17)Abnormalities, Multiple Adult Child Chromosome Aberrations Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 8 Fathers Female Genetic Carrier Screening Humans In Situ Hybridization, Fluorescence Intellectual Disability Male Syndrome Translocation, Genetic