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.
Chen
H
H
Department of Medical Genetics, University of South Alabama, Mobile 36688.
Mirkin
D
D
Yang
S
S
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*