Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: Implications for sex chromosome analysis and bone marrow engraftment analysis

Kathleen M. Murphy, Julie S. Cohen, Amy Goodrich, Patricia P. Long, Constance A. Griffin

Research output: Contribution to journalArticle

Abstract

Amelogenin has chromosome X (AMELX) and Y (AMELY) homologs that can be differentiated based on the length of polymerase chain reaction (PCR) amplification products. In addition to being useful for gender identification, analysis of amelogenin has utility for monitoring bone marrow engraftment in patients after a sex-mismatched bone marrow transplant, characterizing sex chromosome abnormalities, and for forensic purposes for analyzing mixtures of male and female DNA. Here, we describe two brothers in which PCR analysis demonstrated twofold greater AMELY products compared with AMELX products. Karyotype and X/Y fluorescence in situ hybridization analysis demonstrated a single copy of the X and Y chromosomes without any identifiable abnormalities. Oligonucleotide comparative genomic hybridization array analysis demonstrated a duplication of a portion of chromosome Yp that encompassed a region of at least 2.6 Mb but not greater than 4.0 Mb. The amplified region contains the genes AMELY, transducin (β)-like 1 protein Y (TBL1Y), and protein kinase Y (PRKY). To our knowledge, duplication of this region has not previously been reported. The family history is unremarkable, and the brothers are without apparent dysmorphic features. Although this and other genetic variants involving AMELY are uncommon, one should use caution when using amelogenin for sex chromosome analysis and bone marrow engraftment analysis.

Original languageEnglish (US)
Pages (from-to)408-413
Number of pages6
JournalJournal of Molecular Diagnostics
Volume9
Issue number3
DOIs
StatePublished - Jul 2007

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ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

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