A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings-Reference-Cited by-同舟云学术

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

Published:2016-05-09 Issue:7 Volume:170 Page:1930-1933
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wallis Mathew J.¹²,Kelly Amanda L.¹,Peters Gregory B.³,St Heaps Luke³,Nandini Adayapalam⁴,McGaughran Julie M.¹²

Affiliation:

1. Genetic Health Queensland; Royal Brisbane and Women's Hospital; Brisbane Queensland

2. School of Medicine; The University of Queensland; Brisbane Queensland

3. Department of Cytogenetics; The Children's Hospital at Westmead; Sydney New South Wales

4. Department of Cytogenetics; Royal Brisbane and Women's Hospital; Brisbane Queensland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes;Bernardini;Am J Med Genet Part A,2008

2. A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement;Cetin;Gene,2013

3. Structural differences in reciprocal translocations: Potential for a model of risk in Rcp;Daniel;Hum Genet,1979

4. De novo interstitial tandem duplication of chromosome 20p12. 1p13;de Ravel;Am J Med Genet Part A,2003

5. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome;Gordon;J Med Genet,2013

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1. Whole-genome analysis of a putative rare and complex interchromosomal reciprocal insertion: thorough investigations for a straightforward interpretation;Reproductive BioMedicine Online;2021-11

2. Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage;Reproductive BioMedicine Online;2018-07