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.
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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)
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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)
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