Prenatal detection of a de novo Yqh-acrocentric translocation

Clinical Biochemistry
Lucy K L NgMary Hoi Yin Tang

Abstract

To identify the extra chromosomal material on 46,XX,21p+ for prenatal diagnosis. Conventional cytogenetic studies using GTG (G bands by trypsin using Giemsa) and CBG (C bands by barium hydroxide using Giemsa) techniques were performed on chromosomes at metaphase obtained from cultured amniocytes and parental blood lymphocytes. Molecular cytogenetic techniques, QF-PCR (quantitative fluorescent polymerase chain reaction), FISH (fluorescent in-situ hybridization), and DA-DAPI (Distamycin A and 4,6-diamino-2-phenylindole) staining, were then used to clarify the extra material present on fetal chromosome 21 p. The extra material on fetal chromosome 21 p has originated from Yqh, most likely at PAR2 (the secondary pseudoautosomal region). The karyotype should be 46,XX,der(21)t(Y;21)(q12;p13)de novo.ish der(21)t(Y;21)(q12;p13) (EST Cdy16c07+). This case demonstrates the usefulness of molecular techniques in the investigation of rare chromosomal rearrangements.

References

May 1, 1988·Human Genetics·T AlitaloA de la Chapelle
Dec 1, 1994·Journal of Medical Genetics·J L FernándezV Goyanes
Dec 11, 1999·Prenatal Diagnosis·V CiriglianoM Adinolfi
Mar 17, 2001·American Journal of Medical Genetics·E Rajcan-SeparovicJ Guscott
Sep 3, 2002·Journal of Medical Genetics·F MorelM De Braekeleer
Mar 11, 2003·Prenatal Diagnosis·Celia DonaghueCaroline Mackie Ogilvie

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Citations

Apr 19, 2012·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Maria BuckschAhmed B Hamid
Apr 6, 2011·American Journal of Medical Genetics. Part a·Miluse VozdovaJiri Rubes

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