A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay-Reference-Cited by-同舟云学术

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

Published:2022-02-21 Issue:4 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Verdi Giavanna¹^ORCID,Li Dong²^ORCID,Elsea Sarah H.³^ORCID,Nelson Beverly⁴,Bhoj Elizabeth J.²^ORCID,Hakonarson Hakon²^ORCID,Yearwood Katherine R.⁵,Upadhya Sharmila¹,Gluschitz Sarah⁶,Smith Janice L.³,Sobering Andrew K.¹⁷⁸^ORCID

Affiliation:

1. Department of Biochemistry St. George's University School of Medicine True Blue Grenada

2. Center for Applied Genomics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

4. Clinical Teaching Unit St. George's University School of Medicine True Blue Grenada

5. St. George's University Clinic St. George's Grenada

6. Department of Anatomical Sciences St. George's University True Blue Grenada

7. AU/UGA Medical Partnership Athens Georgia USA

8. Windward Islands Research and Education Foundation St. George's Grenada

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1900

Reference25 articles.

1. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome

2. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

3. Familial complex chromosomal rearrangement resulting in a recombinant chromosome

4. Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

5. Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3)