Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype-Reference-Cited by-同舟云学术

Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype

Published:2019 Issue:3 Volume:10 Page:139-146
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Bellucco Fernanda T.,Rodrigues de Oliveira-Júnior Hélio,Santos Guilherme Roberta,Bragagnolo Silvia,Alvarez Perez Ana B.,Ayres Meloni Vera,Melaragno Maria I.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Alanay Y, Aktas D, Utine E, Talim B, Onderoğlu L, et al: Is Dandy-Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations. Am J Med Genet A 136:265-268 (2005).

2. Andresen JH, Aftimos S, Doherty E, Love DR, Battin M: 13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction. Acta Paediatr 99:784-786 (2010).

3. Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, et al: 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet 44:e60 (2007).

4. Bartsch O, Kuhnle U, Wu LL, Schwinger E, Hinkel GK: Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34. Am J Med Genet 65:218-221 (1996).

5. Bedoyan JK, Flore LA, Alkatib A, Ebrahim SA, Bawle EV: Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX,r(13)(p13q34) karyotype. Am J Med Genet A 129A:316-320 (2004).

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