Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion
| Autor: | Ayse Gul Zamani, Ebru Tuncez, Gul Durakbasi-Dursun, M. Selman Yildirim, Serdar Ceylaner, Aynur Acar |
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| Rok vydání: | 2012 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Monosomy Chromosome engineering Trisomy Biology Consanguinity Fatal Outcome Chromosome 18 Gene duplication Chromosomal Abnormality Genetics medicine Humans Copy-number variation Genetics (clinical) Genetic Association Studies Chromosomal inversion Comparative Genomic Hybridization Infant Newborn Infant medicine.disease Chromosome Banding Pedigree Phenotype Chromosome Inversion Female Chromosomes Human Pair 18 |
| Zdroj: | American journal of medical genetics. Part A. (5) |
| ISSN: | 1552-4833 |
| Popis: | 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 duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. © 2014 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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