Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population.

Abstract

AIMS:

The aim of our study was to scan for cryptic rearrangements using the multiplex ligation probe amplification method in a cohort of 64 probands with mental retardation or developmental delays in combination with at least one of the following symptoms: hypotonia after birth, congenital anomalies, or face dysmorphisms; but without a positive cytogenetic finding. The study contributes to the knowledge of microdeletion syndromes and helps disclose their natural phenotypic variability.

RESULTS:

In total, 10 positives (16%) were detected, particularly 3 duplications (Xpter-p22.32; 17p11.2; 22q11) and 6 different deletions (1p36; 7q11.23; 10p15; 15q11-q13; 17p11.2; 17p13.3), 1 of these in 2 probands. Besides the well-characterized syndromes, less-often described rearrangements with ambiguous phenotype associations were also detected.

CONCLUSIONS:

Some rearrangements, particularly duplications, are associated with vague phenotypes; and their frequency could be underestimated.

• Authors: Katerina Hirschfeldova, Alice Baxova, Vera Kebrdlova, Roman Solc, Romana Mihalova, Petr Lnenicka, Kamila Vesela, Jitka Stekrova
• Journal: Genetic testing and molecular biomarkers (Genet Test Mol Biomarkers) Vol. 15 Issue 9 Pg. 607-11 (Sep 2011) ISSN: 1945-0257 [Electronic] United States
• PMID: 21473681 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Child
• Child, Preschool
• Chromosome Aberrations (statistics & numerical data)
• Chromosome Deletion
• Chromosome Disorders (epidemiology, genetics)
• Chromosomes, Human, Pair 1 (genetics)
• Chromosomes, Human, Pair 7
• Cohort Studies
• Czech Republic (epidemiology)
• Female
• Genetics, Population
• Humans
• Infant
• Intellectual Disability (epidemiology, genetics)
• Male
• Prader-Willi Syndrome (epidemiology, genetics)
• Williams Syndrome (epidemiology, genetics)