Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report

American Journal of Medical Genetics. Part a
Eliana DemoriVanna Pecile

Abstract

We report on a 3-year-old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centromeric and yeast artificial chromosome (YAC) probes, were performed to characterize further the supernumerary chromosome. The ring origin has been detected from the short arm of chromosome 8, resulting in r(8)(p10p23.1). Moreover, uniparental disomy (UPD) using microsatellite analysis was excluded. To our knowledge a total of 25 cases, confirmed by FISH, have been reported with either supernumerary marker or ring chromosome 8. We present a detailed clinical and molecular cytogenetic characterization of this additional case in order to better define the genotype-phenotype correlation.

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Citations

Aug 13, 2008·Journal of Autism and Developmental Disorders·Heval M OzgenMartin Poot
Oct 26, 2010·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·M A Tejero HernándezM Barcos
Oct 17, 2008·American Journal of Medical Genetics. Part a·Isabel FilgesPeter Miny
May 8, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Dimitrios I ZafeiriouEuthymia Vargiami
Mar 16, 2005·Clinical Biochemistry·Mark M KushnirFrancis M Urry
Jul 11, 2006·European Journal of Medical Genetics·Gyri Aasland GradekGunnar Houge
Nov 23, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Leda DalpràLidia Larizza
Sep 14, 2007·American Journal of Medical Genetics. Part a·Sophie VanhaesebrouckClaire Theyskens
Dec 14, 2007·American Journal of Medical Genetics. Part a·Daniela BettioDavid H Ledbetter

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