Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations

Cryptic chromosome aberrations are a common cause of idiopathic mental retardation and multiple congenital malformations syndromes (MR/MCM). This study describes results and compares three methods for detection of submicroscopic chromosome aberrations in 76 children with MR/MCM and normal routine G-...

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Bibliographic Details
Published in:	Folia medica (Plovdiv) Vol. 50; no. 4; p. 55
Main Authors:	Stoeva, Radka E, Grozdanova, Liliana I, Vermeesch, Joris R, Kirchhoff, Maria, Fryns, Jean-Pierre, Ivanov, Ivan S, Patcheva, Iliana H, Dimitrov, Boyan I, Krastev, Tsanyu B, Linev, Alexander J, Stefanova, Margarita T
Format:	Journal Article
Language:	English
Published:	Bulgaria 01-10-2008
Subjects:	Abnormalities, Multiple - genetics Child Chromosome Aberrations Humans Intellectual Disability - complications Intellectual Disability - genetics Molecular Diagnostic Techniques
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Summary:	Cryptic chromosome aberrations are a common cause of idiopathic mental retardation and multiple congenital malformations syndromes (MR/MCM). This study describes results and compares three methods for detection of submicroscopic chromosome aberrations in 76 children with MR/MCM and normal routine G-banded karyotype. Cryptic chromosome aberrations were detected in 15 patients (19.7%): in 3 of 19 patients (15.8%) by subtelomeric fluorescent in situ hybridization (FISH), in 5 of 47 patients (10.6%) by Multiplex Ligation Dependent Probe Amplification (MLPA) and in 7 of 23 patients (30.4%) by array-Comparative Genome Hybridization (array-CGH). Seven deletions, four duplications and four complex rearrangements have been diagnosed in the present study. Six were de novo and 2 were inherited from a parent carrier of balanced translocation. We observed a slightly higher imbalance incidence compared to the literature. Among these aberrations there were well known syndromes as well as some rare variants. This study confirms the utility of molecular-cytogenetic screening in patients with MR/MCM. We suggest array-CGH as the most reliable technique with a high diagnostic yield.
ISSN:	0204-8043