Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.

Human genetics ·Vol. 84 ·No. 4 ·1990-03-00 ·Pages 347-52

Schmidt M, Certoma A, Du Sart D, Kalitsis P, Leversha M, Fowler K, Sheffield L, Jack I, Danks DM

Abstract

A de novo interstitial deletion (X)(q27.1q27.3), between the loci DXS 105 and F8, has been found in a mentally retarded female. The deleted X chromosome is preferentially early replicating in fibroblasts, B cells and T cells, suggesting that the missing region plays a role in inactivation of the X chromosome. None of the available DNA probes except DXS 98 maps to the deleted region of about 10,000 kb. The locus FRAXA is either included in the deletion, or located close to the distal break point.

MeSH Terms

Blotting, Southern Child, Preschool Chromosome Banding Chromosome Deletion Chromosome Mapping DNA Replication Dosage Compensation, Genetic Female Fragile X Syndrome/genetics Humans Intellectual Disability/genetics Karyotyping Sex Chromosome Aberrations/genetics X Chromosome

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Schmidt M

Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

Certoma A

Du Sart D

Kalitsis P

Leversha M

Fowler K

Sheffield L

Jack I

Danks D M

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00196232

Published

1990-03-00

Pages

347-52

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00196232 View journal details

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Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.

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