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Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.

Abstract：

PURPOSE:Male carriers of an X-autosome translocation are generally infertile, regardless of the position of the breakpoint on the X chromosome while the pathogenicity of Xp22.3 subtelomeric duplications is under debate. To shed light into this controversy, we present a rare case, of an azoospermic male with no other significant clinical findings, in whom classical cytogenetics revealed additional unbalanced chromosomal material, at the telomere of the long arm of one homolog of chromosome 9. METHODS:In peripheral blood specimens of the index case and his parents, we performed GBanding, Inverted-DAPI Banding, AgNOR staining, Telomere specific Fluorescence in Situ Hybridization (FISH), Molecular karyotyping by Multi-color FISH, whole genome SNP microarrays, sub-telomeric MLPA, and transcription analysis of the expression of KAL1 gene by RT-PCR. RESULTS:Multi-color FISH revealed an unbalanced translocation involving the short arm of chromosome X. SNP microarray analysis combined to classical cytogenetics and MLPA demonstrated a de novo 8.796 Mb duplication of Xp22.31-p22.33. Compared to three control specimens, the patient presented significantly elevated expression levels of KAL1 mRNA in peripheral blood, suggesting transcriptional functionality of the duplicated segment. CONCLUSIONS:The duplicated segment contains the pseudo-autosomal region PAR1 and more than 30 genes including SHOX, ARSE, STS, KAL1, and FAM9A and is not listed as polymorphic. Our data advocate that duplications of the Xp22.3 region may not be associated with a clinical consequence.

journal_name

J Assist Reprod Genet

journal_title

Journal of assisted reproduction and genetics

authors

Roumelioti FM,Louizou E,Karras S,Neroutsou R,Velissariou V,Gagos S

doi

10.1007/s10815-019-01405-0

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

769-775

issue

4

eissn

1058-0468

issn

1573-7330

pii

10.1007/s10815-019-01405-0

journal_volume

36

pub_type

杂志文章

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