Literature DB >> 8362902

Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.

H Nienhaus1, U Mau, K D Zang, W Henn.   

Abstract

We describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. We conclude that there is a causal relationship between the chromosomal disorder and the CCD.

Entities:  

Mesh：

Year:  1993        PMID： 8362902     DOI： 10.1002/ajmg.1320460605

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

Review 1.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

2.  Cleidocranial dysplasia: complete clinical, radiological and histological profiles.

Authors:  Ruchieka Vij; Puneet Batra; Hitesh Vij
Journal:  BMJ Case Rep       Date:  2013-03-20

Review 3.  Cleidocranial dysplasia: clinical and molecular genetics.

Authors:  S Mundlos
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

4.  Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

Authors:  R S Ramesar; J Greenberg; R Martin; R Goliath; S Bardien; S Mundlos; P Beighton
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

5.  A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Authors:  G J Feldman; N H Robin; L A Brueton; E Robertson; E M Thompson; J Siegel-Bartelt; D L Gasser; L C Bailey; E H Zackai; M Muenke
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

6.  Cleidocranial dysplasia.

Authors:  Stepan Kutilek; Roman Machytka; Petr Munzar
Journal:  Sudan J Paediatr       Date:  2019

7.  De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.

Authors:  Smita M Purandare; Roberto Mendoza-Londono; Svetlana A Yatsenko; Dobrawa Napierala; Daryl A Scott; Tarek Sibai; Kari Casas; Patrick Wilson; Jiyun Lee; Razia Muneer; Joe C Leonard; Faridali G Ramji; Ralph Lachman; Shibo Li; Pawel Stankiewicz; Brendan Lee; John J Mulvihill
Journal:  Am J Med Genet A       Date:  2008-02-15       Impact factor: 2.802
  7 in total

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