Article
Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1990
Petit P, Fryns J P
Abstract excerpt
Two malformed newborns with the typical Wolf-Hirschhorn syndrome (WHS) resulting from familial balanced translocations t(4;11)(p153;p154) and t(4;18)(p152;q23) respectively, are presented. A third child with the Cri du Chat syndrome and der(5), t(2;5)(q333;p141) is reported. These three cases give further support to the epistatic hypothesis at the chromosomal level of the Bp monosomies over other partial...
Topics
- Chromosome Deletion
- Chromosomes, Human, 4-5
- Cri-du-Chat Syndrome
- Epistasis, Genetic
- Female
- Genetic Carrier Screening
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Phenotype