A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal-Reference-Cited by-同舟云学术

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A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal

Published:2021-05 Issue:5 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Cordes Selby Susan¹,Iwata‐Otsubo Aiko²,Delk Paula²,Nebesio Todd D.³,Gohil Anisha³,Matlock Peggy²,Torres‐Martinez Wilfredo²,Vance Gail H.²^ORCID

Affiliation:

1. Community Health Network, Maternal‐Fetal Medicine Indianapolis IN USA

2. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA

3. Division of Pediatric Endocrinology/Diabetology Department of Pediatrics Indiana University School of Medicine Indianapolis IN USA

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.4141

Reference21 articles.

1. Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex reversal;Fryns JP;Ann Genet,1986

2. Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development

3. Partial trisomy 3p/monosomy 9p with sex reversal

4. Mild phenotypic abnormalities in combined del 9p2 and dup 3p2

5. A mild phenotype associated with der(9)t(3;9) (p25;p23).

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. Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review;Genes;2023-01-05

2. From karyotypes to precision genomics in 9p deletion and duplication syndromes;Human Genetics and Genomics Advances;2022-01

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