Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

doi:10.1002/ajmg.a.36410

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Article

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

American journal of medical genetics. Part A - 1 May 2014

Zamani Ayse Gul, Acar Aynur, Durakbasi-Dursun Gul, Yildirim M Selman, Ceylaner Serdar, Tuncez Ebru

Abstract excerpt

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize...

Topics

Chromosome Banding
Chromosome Inversion
Chromosomes, Human, Pair 18
Comparative Genomic Hybridization
Consanguinity
Fatal Outcome
Female
Genetic Association Studies
Humans
Infant
Infant, Newborn
Male
Monosomy
Pedigree
Phenotype
Trisomy

Source

Open in PubMed

Identifiers

PMID: 24478222
DOI: 10.1002/ajmg.a.36410

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