De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes.
A de novo 17q paracentric inversion mosaicism is detected in a fetus with type IV short rib (polydactyly) syndrome (Beemer-Langer). The cytogenetic finding in our case suggests a possible location of the gene or cluster of linked genes responsible for SR (P) S type IV to 17q21 or 17q23. Since this chromosome abnormality has not been described in short rib polydactyly syndromes and the existence of type IV SR (P) S has been controversial, the literature of this entity is reviewed with special consideration to the classification of short rib polydactyly syndromes.
Department of Medical Genetics, University of South Alabama, Mobile 36688.
H
H
Chen
D
D
Mirkin
S
S
Yang
D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D003582:Cytogenetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009030:Mosaicism; D005810:Multigene Family; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*