Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother-Reference-Cited by-同舟云学术

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother

Published:2018-09 Issue:9 Volume:176 Page:1985-1990
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Thakur Mili¹²,Bronshtein Elena³,Hankerd Michael⁴,Adekola Henry³,Puder Karoline³,Gonik Bernard³,Ebrahim Salah⁴⁵^ORCID

Affiliation:

1. Division of Genetic and Metabolic Disorders, Department of Pediatrics and Center for Molecular Medicine and GeneticsWayne State University Detroit Michigan

2. Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and GynecologyWayne State University/Detroit Medical Center Detroit Michigan

3. Division of Maternal‐Fetal Medicine, Department of Obstetrics and GynecologyWayne State University/Detroit Medical Center Detroit Michigan

4. Cytogenetics LaboratoryDetroit Medical Center University Laboratories Detroit Michigan

5. Department of PathologyWayne State University School of Medicine Detroit Michigan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40376

Reference23 articles.

1. Subtelomere deletions and translocations are frequently familial

2. Subtelomeric rearrangements detected in patients with idiopathic mental retardation

3. Notch Signaling: Cell Fate Control and Signal Integration in Development

4. Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

5. Isolated 6q terminal deletions: An emerging new syndrome

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