Literature DB >> 8330455

Fertility and the cri du chat syndrome.

J E Martínez1, C M Tuck-Muller, D Superneau, W Wertelecki.   

Abstract

We describe a mother and daughter with typical cri du chat syndrome. Previous investigators have noted the lack of information about the reproductive fitness of patients with this disorder. This report demonstrates that females with cri du chat syndrome are fertile, can gestate and likewise deliver affected offspring, which has significant management and counseling implications.

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Year:  1993        PMID: 8330455     DOI: 10.1111/j.1399-0004.1993.tb04467.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Authors:  I A Glass; P Stormer; P T Oei; E Hacking; P D Cotter
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

2.  Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome.

Authors:  Anju Zhang; Chengyun Zheng; Mi Hou; Charlotta Lindvall; Ke-Jun Li; Fredrik Erlandsson; Magnus Björkholm; Astrid Gruber; Elisabeth Blennow; Dawei Xu
Journal:  Am J Hum Genet       Date:  2003-03-10       Impact factor: 11.025

Review 3.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

Review 4.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123

  4 in total

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