Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature-Reference-Cited by-同舟云学术

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Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature

Published:2017-04-10 Issue:6 Volume:173 Page:1673-1680
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Douglas Chad¹^ORCID,Smith Stephen A.²,Rohena Luis³⁴

Affiliation:

1. Department of Pediatrics; San Antonio Military Medical Center; San Antonio Texas

2. Department of Surgery; San Antonio Military Medical Center; San Antonio Texas

3. Division of Medical Genetics; Department of Pediatrics; San Antonio Military Medical Center; San Antonio Texas

4. Department of Pediatrics; University of Texas Health Science Center at San Antonio; San Antonio Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3);Asano;Japanese Journal of Human Genetics,1991

2. Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5(p151q333);Beemer;Clinical Genetics,1984

3. A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36);Delicado;Journal of Medical Genetics,1991

4. DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources;Firth;The American Journal of Human Genetics,2009

5. Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion;Hoo;Human Genetics,1982

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy;Molecular Syndromology;2021

2. Síndrome de Patau por translocación recíproca entre los cromosomas 10 y 13;Revista Mexicana de Pediatría;2020

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