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Article

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

Pediatric research - 1 Mar 2009

Sirleto Pietro, Surace Cecilia, Santos Helena, Bertini Enrico, Tomaiuolo Anna C, Lombardo Antonietta, Boenzi Sara, Bevivino Elsa, Dionisi-Vici Carlo, Angioni Adriano

Abstract excerpt

Menkes disease (MD) is a rare and severe X-linked recessive disorder of copper metabolism. The MD gene, ATP7A (ATPase Cu++ transporting alpha polypeptide), encodes an ATP-dependent copper-binding membrane protein. In this report, we describe a girl with typical clinical features of MD, carrying a balanced translocation between the chromosomes X and 16 producing the disruption of one copy of ATP7A gene and the...

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Source

Identifiers

PMID: 19092723
DOI: 10.1203/PDR.0b013e3181973b4e

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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