Balanced Complex Chromosomal Rearrangements (BCCR) with at Least Three Chromosomes and Three or More Breakpoints: Report of Three New Cases

Overview

Journal Ann Genet

Publisher Elsevier

Specialty Genetics

Date 2004 Sep 1

PMID 15337478

Citations 4

Authors

J Lespinasse

M O Rethore

M O North

M Bovier-Lapierre

C Lundsteen

S Fert-Ferrer

M Bugge

M Kirchoff

Affiliations

Soon will be listed here.

Abstract

Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of BCCRs. In two the probands were referred for either genetic counseling or prenatal management. One case was ascertained after chromosome analysis performed because of psychiatric manifestations; this was an isolated finding. We also outline the molecular cytogenetic techniques, which were essential in confirming and precisely delineating the BCCRs identified in these patients. In addition the various aspects of genetic counseling for this type of chromosomal rearrangement, highlighting the details particular to each individual case are discussed. We discuss the classification for this type of chromosomal mutation.

Citing Articles

Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.

Sheth F, Shah J, Liehr T, Desai M, Patel H, Sheth J J Assist Reprod Genet. 2024; 42(1):39-62.

PMID: 39543058 PMC: 11806180. DOI: 10.1007/s10815-024-03316-1.

Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.

Pan Q, Hu H, Han L, Jing X, Liu H, Yang C PLoS One. 2016; 11(5):e0154574.

PMID: 27218255 PMC: 4878739. DOI: 10.1371/journal.pone.0154574.

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

Nazaryan L, Stefanou E, Hansen C, Kosyakova N, Bak M, Sharkey F Eur J Hum Genet. 2013; 22(3):338-43.

PMID: 23860044 PMC: 3925275. DOI: 10.1038/ejhg.2013.147.

Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement.

Kirkpatrick G, Ma S J Assist Reprod Genet. 2011; 29(1):77-81.

PMID: 22105185 PMC: 3252413. DOI: 10.1007/s10815-011-9655-0.