Interstitial deletion 5p14.1‐p15.2 and 5q14.3‐q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities-Reference-Cited by-同舟云学术

Interstitial deletion 5p14.1‐p15.2 and 5q14.3‐q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities

Published:2017-08-16 Issue:10 Volume:173 Page:2798-2802
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Balta Burhan¹^ORCID,Erdogan Murat¹,Ergul Ayse B.²,Sahin Yavuz³^ORCID,Ozcan Alper⁴

Affiliation:

1. Department of Medical GeneticsKayseri Training and Research HospitalKayseriTurkey

2. Department of PediatricsKayseri Training and Research HospitalKayseriTurkey

3. Department of Medical GeneticsNecipFazıl State HospitalKahramanmarasTurkey

4. Departments of PediatricsDepartment of Pediatric Hematology OncologyErciyes UniversityKayseriTurkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38386

Reference20 articles.

1. Prenatal Diagnosis of Cri Du Chat Syndrome with Encephalocele

2. Cri-du-chat syndrome associated with arachnoid cyst causing triventricular hydrocephalus

3. Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

4. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

5. Three cases with de novo 6q imbalance and variable prenatal phenotype

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1. Interstitial 5p15.2-p13.3 deletion in association with situs inversus, dextrocardia, L-loop of the ventricles, and transposition of great arteries in a newborn infant;Cardiology in the Young;2019-07-23

2. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance;The American Journal of Human Genetics;2019-07