Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

Literature DB >> 1583645

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

I D Young¹, J M Zuccollo, E L Maltby, N J Broderick.

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.

Entities: Disease Gene

Mesh：

Year: 1992 PMID： 1583645 PMCID： PMC1015925 DOI： 10.1136/jmg.29.4.251

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

5 in total

1. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis.

Authors: R Maraia; H M Saal; D Wangsa
Journal: Clin Genet Date: 1991-06 Impact factor: 4.438

2. Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24.

Authors: M E Harper; H A Barrera-Saldaña; G F Saunders
Journal: Am J Hum Genet Date: 1982-03 Impact factor: 11.025

3. Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case.

Authors: C T Cooke; M T Mulcahy; G J Cullity; M Watson; P Srague
Journal: Pathology Date: 1985-07 Impact factor: 5.306

4. Campomelic syndrome: manifestations in a 20 week fetus and case history of a 5 year old child.

Authors: Y Gillerot; C A Vanheck; M Foulon; A Podevain; L Koulischer
Journal: Am J Med Genet Date: 1989-12

Review 5. The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

Authors: C S Houston; J M Opitz; J W Spranger; R I Macpherson; M H Reed; E F Gilbert; J Herrmann; A Schinzel
Journal: Am J Med Genet Date: 1983-05

5 in total

13 in total

1. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Authors: D Pfeifer; R Kist; K Dewar; K Devon; E S Lander; B Birren; L Korniszewski; E Back; G Scherer
Journal: Am J Hum Genet Date: 1999-07 Impact factor: 11.025

2. Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Authors: Katherine L Hill-Harfe; Lee Kaplan; Heather J Stalker; Roberto T Zori; Ramona Pop; Gerd Scherer; Margaret R Wallace
Journal: Am J Hum Genet Date: 2005-04 Impact factor: 11.025

3. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Authors: Gopalrao V N Velagaleti; Gabriel A Bien-Willner; Jill K Northup; Lillian H Lockhart; Judy C Hawkins; Syed M Jalal; Marjorie Withers; James R Lupski; Pawel Stankiewicz
Journal: Am J Hum Genet Date: 2005-02-22 Impact factor: 11.025

Review 4. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors: N Tommerup
Journal: J Med Genet Date: 1993-09 Impact factor: 6.318

5. Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Authors: A S Teebi; S Miller; H Ostrer; P Eydoux; C Colomb-Brockmann; K Oudjhane; G Watters
Journal: J Med Genet Date: 1998-09 Impact factor: 6.318

Review 6. Sox9 function in craniofacial development and disease.

Authors: Young-Hoon Lee; Jean-Pierre Saint-Jeannet
Journal: Genesis Date: 2011-04-01 Impact factor: 2.487

7. Global survey of protein expression during gonadal sex determination in mice.

Authors: Katherine Ewen; Mark Baker; Dagmar Wilhelm; R John Aitken; Peter Koopman
Journal: Mol Cell Proteomics Date: 2009-07-17 Impact factor: 5.911

8. Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.

Authors: J Wirth; T Wagner; J Meyer; R A Pfeiffer; H U Tietze; W Schempp; G Scherer
Journal: Hum Genet Date: 1996-02 Impact factor: 4.132

9. A clinical and genetic study of campomelic dysplasia.

Authors: S Mansour; C M Hall; M E Pembrey; I D Young
Journal: J Med Genet Date: 1995-06 Impact factor: 6.318

10. Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

Authors: R Savarirayan; A Bankier
Journal: J Med Genet Date: 1998-07 Impact factor: 6.318