Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome

Clinical Genetics
N Kokalj VokacA Zagorac

Abstract

In this paper we present the case of a girl at the age of 32 months with dysmorphic features, including general muscular hypotonia, developmental delay and mental retardation. The cytogenetic analysis revealed de novo partial duplication of Xp: 46,X,dup(X)(p11.23-->p22.33: :p11.23-->p22.33). To characterize the duplication, X painting, Kallman (KAL), yeast artificial chromosomes (YACs) and bacterial artificial chromosomes (BACs) covering Xp11.23-->Xp22.33 region were used. Selective inactivation of the abnormal X chromosome using HpaII digestion of the AR gene was evident. After BrdU incorporation the abnormal X was late-replicating in all lymphocytes examined. There was one peculiar exception observed: the break-point region was consistently early replicating. The replicating pattern of this region corresponded to the active X chromosome. Methylation pattern of late replicating X chromosome was studied also using antibodies against 5-methylcytosine. The pattern corresponded to the normally inactive X chromosome, with the exception of the previously observed break-point region which revealed an early replicating pattern with strong fluorescent signal, similar to the pattern of the active X chromosome. The observed phenomenon co...Continue Reading

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Citations

Nov 5, 2004·American Journal of Medical Genetics. Part a·G TachdjianP Labrune
Mar 29, 2005·American Journal of Medical Genetics. Part a·E KolomietzD Chitayat
Apr 17, 2008·American Journal of Medical Genetics. Part a·Sophie MonnotHouda Karmous-Benailly
Sep 18, 2008·American Journal of Medical Genetics. Part a·Maria PiccioneGiovanni Corsello
Mar 23, 2011·Developmental Medicine and Child Neurology·Anna C EdensKenton R Holden
Jul 6, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Lingqian WuDesheng Liang
Apr 2, 2010·American Journal of Medical Genetics. Part a·Laura ThorsonGordana Raca
May 4, 2021·Frontiers in Genetics·Márta CzakóKinga Hadzsiev

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