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

Tijdschriftbijdrage - Tijdschriftartikel

UNLABELLED: Cryptic chromosome aberrations are a common cause of idiopathic mental retardation and multiple congenital malformations syndromes (MR/MCM).

MATERIAL AND METHODS: 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.

RESULTS: 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.

DISCUSSION: 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.

CONCLUSION: 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.

Tijdschrift: Folia Med
ISSN: 0204-8043
Issue: 4
Volume: 50
Pagina's: 55-62
Trefwoorden:Abnormalities, Multiple, Child, Chromosome Aberrations, Humans, Intellectual Disability, Molecular Diagnostic Techniques
  • ORCID: /0000-0001-8020-393X/work/62456092
  • Scopus Id: 61549139372