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Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late‐replicating dupX chromosome by N Kokalj Vokac; P Seme Ciglenecki; A Erjavec; B Zagradisnik; A Zagorac is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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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 __Hpa__II 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 th

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Author

N Kokalj Vokac; P Seme Ciglenecki; A Erjavec; B Zagradisnik; A Zagorac

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0009-9163)

Published

2002

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)