NDLI: Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Verkerk, Annemieke J. M. H. Schot, Rachel Van Waterschoot, Laura Douben, Hannie Poddighe, Pino J. Lequin, Maarten H. de Vries, Linda S. Terhal, Paulien Hahnemann, Johanne M. D. de Coo, Irenaeus F. M. de Wit, Marie-Claire Y. Wafelman, Leontien S. Garavelli, Livia Dobyns, William B. Van der Spek, Peter J. de Klein, Annelies Mancini, Grazia M. S.
Description	Country affiliation: Netherlands Author Affiliation: Verkerk AJ ( Department of Bioinformatics, Erasmus Medical Center, Rotterdam, The Netherlands.)
Abstract	The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH-like patients and compare these with five unrelated MPPH and Sotos patients harboring a 5q35 microdeletion. Mapping of the breakpoints in the two cousins was performed by MLPA, FISH, high density SNP-arrays and Q-PCR for the 5q35 deletion and 20q13 duplication. The 5q35 deletion area of the two cousins almost completely overlaps with earlier described patients with an atypical Sotos microdeletion, except for the DRD1 gene. The five unrelated MPPH patients neither showed submicroscopic chromosomal aberrations nor DRD1 mutations. We reviewed the brain MRI of 10 Sotos patients and did not detect polymicrogyria in any of them. In our two cousins, the MPPH-like phenotype is probably caused by the contribution of genes on both chromosome 5q35 and 20q13. Some patients with MPPH may harbor a submicroscopic chromosomal aberration and therefore high-resolution array analysis should be part of the diagnostic workup.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33408
Journal	American Journal of Medical Genetics Part A
Issue Number	6
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Chromosomes, Human, Pair 5 Genetics Hydrocephalus Malformations Of Cortical Development Polydactyly Translocation, Genetic Brain Abnormalities Child, Preschool Chromosome Mapping Diagnosis In Situ Hybridization, Fluorescence Karyotyping Magnetic Resonance Angiography Pedigree Sequence Deletion Syndrome Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

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