Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

Abstract

A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus.

Trisomy 2q35-q37 due to insertion of 2q material into 17q25: Clinical, cytogenetic, and molecular cytogenetic characterization

“…Although we excluded loss of chromosome 17 material at the insertion site, a chromosome break per se could still affect gene function as shown in campomelic dysplasia (CMPD1) with sex reversal within 17q24.3-q25.1 [Young et al, 1992;Tommerup et al, 1993;Wirth et al, 1996]. However, our patient did not display campomelia or sex reversal.…”

Mutations inSRY andSOX9: Testis-determining genes

“…To date there have been 14 heterozygous mutations described in SOX9 (Foster et al, 1994;Wagner et al, 1994;Kwok et al, 1995;Cameron et al, 1996;Hageman et al, 1997) and 10 17q translocations described in 28 patients with CD (Maraia et al, 1991;Young et al, 1992;Tommerup et al, 1993;Chatters and Whitecross, 1994;Kwok et al, 1995). There have been no reported cases of patients having both a balanced 17q translocation and a mutation in SOX9 (Kwok et al, 1995).…”

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

“…It was speculated that disruption of 2 structural genes, Hox-2 and COLlAl, which have been mapped to 17q21-q22 and 17q21.3-922, respectively [Rabin et al, 1985;Retiefet al, 19851, may lead to variable phenotypes associated with campomelic dysplasia. Young et al [1992] reported the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 [a de nouo t(2;17) (q35;q23-24)] was present. They further called attention on loci such as growth hormoneplacental lactogen gene family [Harper et al, 19821.…”