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

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

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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 silencing of the other copy because of the chromosome X inactivation. Fluorescence in situ hybridization experiments with bacterial derived artificial chromosome probes revealed that the breakpoints were located within Xq13.3 and 16p11.2. Replication pattern analysis demonstrated that the normal X chromosome was late replicating and consequently inactivated, whereas the der(X)t(X;16), bearing the disrupted ATP7A gene, was active. An innovative approach, based on FMR1 (fragile X mental retardation 1) gene polymorphism, has been used to disclose the paternal origin of the rearrangement providing a new diagnostic tool for determining the parental origin of defects involving the X chromosome and clarifying the mechanism leading to the cytogenetic rearrangement that occurred in our patient.

Original languageEnglish
Pages (from-to)347-351
Number of pages5
JournalPediatric Research
Issue number3
Publication statusPublished - Mar 2009

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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