NDLI: A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations.

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A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations.

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A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Gruchy, Nicolas Barreau, Morgane Kessler, Ketty Gourdier, Dominique Leporrier, Nathalie
Description	Country affiliation: France Author Affiliation: Gruchy N ( Laboratoire de cytogénétique prénatale niveau 3, Centre Hospitalier Universitaire de Caen, Avenue Côte de Nacre, 14033 Caen Cedex, France. gruchy-n@chu-caen.fr)
Abstract	Complex chromosomal rearrangements (CCRs) are uncommon and mainly occur de novo. We report here on a familial CCR involving chromosomes 2, 6, and 18. The propositus is a boy first referred because of growth delays, hypotonia, and facial anomalies, suggestive of deletion 18q syndrome. However, a cytogenetic family study disclosed a balanced CCR in three generations, which was detailed by FISH using BAC clones, and consisted of eight breakpoints with five insertional translocations (ITs). The propositus had a cryptic 18q deletion and a 6p duplication. Paternal transmission of this CCR was observed through three generations without meiotic recombination. Our investigation allowed us to provide porosities counseling and management of prenatal diagnosis for propositus cousin who carries this particular CCR.
File Format	HTM / HTML
ISSN	15524825
Issue Number	1
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-01-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Fragile Sites Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 6 Genomic Imprinting Translocation, Genetic Chromosomes, Artificial, Bacterial Female Humans In Situ Hybridization, Fluorescence Male Pedigree Spectral Karyotyping Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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