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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of Medical Genetics · 2006 · Vol. 43(8) · pp. 625–633

Björn Menten(Ghent University Hospital)N MaasB ThienpontK Buysse(Ghent University Hospital)J Vandesompele(Ghent University Hospital)C MelotteT de RavelS Van Vooren(KU Leuven)I BalikovaL BackxS Janssens(Ghent University Hospital)A De Paepe(Ghent University Hospital)B De Moor(KU Leuven)Y Moreau(KU Leuven)P Marynen(Vlaams Instituut voor Biotechnologie)J-P FrynsG Mortier(Ghent University Hospital)K DevriendtF Speleman(Ghent University Hospital)J R Vermeesch✉(Vlaams Patiëntenplatform)

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Abstract

Array CGH should be considered an essential aspect of the genetic analysis of patients with MCA/MR. In addition, in the present study three patients were mosaic for a structural chromosome rearrangement. One of these patients had monosomy 7 in as few as 8% of the cells, showing that array CGH allows detection of low grade mosaicisims.

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genomics and Rare DiseasesMonosomyKaryotypeSubtelomereChromosomal translocationGeneticsBiologyComparative genomic hybridizationChromosomal rearrangementChromosomeGene

MeSH terms

Abnormalities, MultipleAdolescentAdultChildChild, PreschoolChromosome AberrationsChromosomes, Human, Pair 7FemaleHumansInfantMaleIntellectual DisabilityMiddle AgedNucleic Acid HybridizationGenome, Human

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size