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Article

Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.

Human heredity - 1 Jan 2001

Volleth M, Stumm M, Mohnike K, Kalscheuer V M, Jakubiczka S, Wieacker P

Abstract excerpt

We report on an 18-year-old female with de novo tandem duplication Xq23-->Xq27-28. The breakpoints of the duplication segment have been mapped by FISH using a panel of locus specific YACs. Despite selective inactivation of the aberrant X chromosome, proven by a combination of molecular and cytogenetic studies, the patient exhibits mental retardation, dysmorphic features and short stature. Possible mechanisms...

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Identifiers

PMID: 11588402
DOI: 10.1159/000053374

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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