Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review-Reference-Cited by-同舟云学术

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Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review

Published:2020-07-02 Issue:1 Volume:20 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

He Xue,Shen Huijun,Fu Haidong,Feng Chunyue,Liu Zhixia,Jin Yanyan,Mao Jianhua

Funder

National Natural Science Foundation of China

Key Research and Development Plan of Zhejiang Province

Major projects jointly constructed by the Zhejiang province and National Health Commission

Natural Science Foundation of Zhejiang Province

Zhejiang Province Public Welfare Technology Application Research Project

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-020-02205-7.pdf

Reference28 articles.

1. Sagi-Dain L, Goldberg Y, Peleg A, Sukenik-Halevy R, Sofrin-Drucker E, Appelman Z, Josefsberg BYS, Ben-Shachar S, Vinkler C, Basel-Salmon L, et al. The rare 13q33–q34 microdeletions: eight new patients and review of the literature. Hum Genet. 2019;138(10):1145–53.

2. Huang C, Yang YF, Yin N, Chen JL, Wang J, Zhang H, Tan ZP. Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion. Gene. 2012;498(2):308–10.

3. Lele KP, Penrose LS, Stallard HB. Chromosome deletion in a CASE of retinoblastoma. Ann Hum Genet. 1963;27:171–4.

4. Bellucco FT. Rodrigues de Oliveira-junior H, Santos Guilherme R, Bragagnolo S, Alvarez Perez AB, Ayres Meloni V, Melaragno MI: deletion of chromosome 13 due to different rearrangements and impact on phenotype. Mol Syndromol. 2019;10(3):139–46.

5. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 1993;45(1):52–9.

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