Am J Med Genet. 1995 Mar 13;56(1):31-4.

Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation.

Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S, Seino Y.

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Department of Pediatrics, Okayama University Medical School, Japan.

Abstract

The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and/or sex reversal (SR) has led to an assignment of the CMPS1/SRA1 locus to 17q24.3-->q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. This study suggests that acampomelic CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome.

PMID:: 7747782; [PubMed - indexed for MEDLINE]

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Related citations in PubMed

Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal. [Hum Mol Genet. 1996]
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.
Ninomiya S, Isomura M, Narahara K, Seino Y, Nakamura Y. Hum Mol Genet. 1996 Jan; 5(1):69-72.
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. [Nat Genet. 1993]
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.
Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H. Nat Genet. 1993 Jun; 4(2):170-4.
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. [J Med Genet. 1998]
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Savarirayan R, Bankier A. J Med Genet. 1998 Jul; 35(7):597-9.
Review Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia. [Acta Paediatr Jpn. 1996]
Review Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.
Foster JW. Acta Paediatr Jpn. 1996 Aug; 38(4):405-11.
Review Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene. [Ann N Y Acad Sci. 1996]
Review Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.
Schafer AJ, Foster JW, Kwok C, Weller PA, Guioli S, Goodfellow PN. Ann N Y Acad Sci. 1996 Jun 8; 785:137-49.

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Cited by 2 PubMed Central articles

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. [Am J Hum Genet. 2005]
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
Hill-Harfe KL, Kaplan L, Stalker HJ, Zori RT, Pop R, Scherer G, Wallace MR. Am J Hum Genet. 2005 Apr; 76(4):663-71.
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. [Am J Hum Genet. 1999]
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.
Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G. Am J Hum Genet. 1999 Jul; 65(1):111-24.

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