Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins-Reference-Cited by-同舟云学术

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Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins

Published:2019 Issue:5 Volume:10 Page:264-271
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Mozer Joaquim Tatiana,Paiva Grangeiro Carlos H.,Gaona de Oliveira Gennaro Flávia,Galvão Gomes Alexandra,Squire Jeremy A.,Martelli Lucia R.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Andersen EF, Carey JC, Earl DL, Corzo D, Suttie M, et al: Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn syndrome. Eur J Hum Genet 22:464-470 (2014).

2. Bao L, Schorry EK: A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother. Am J Med Genet A 138:361-364 (2005).

3. Battaglia A, Carey JC, South ST: Wolf-Hirschhorn syndrome: a review and update. Am J Med Genet C Semin Med Genet 169:216-223 (2015).

4. Bayindir B, Piazza E, Mina ED, Limongelli I, Brustia F, et al: Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene. Eur J Med Genet 56:551-555 (2013).

5. Bouman A, Schuitema A, Pfundt R, Van de Zande G, Kleefstra T: Clinical delineation of a patient with trisomy 12q23q24. Eur J Med Genet 56:463-469 (2013).

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1. Prenatal Clinical Presentation and Genetic Analysis of Partial Trisomy 12: A Case Report;Cureus;2024-08-21

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