title: Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect.
abstract: 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 autosomal trisomic syndromes.
authors.affiliation: Centre for Human Genetic, U.Z. Gasthuisberg, Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Petit
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D004843:Epistasis, Genetic; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy