Preimplantation genetic diagnosis of chromosome balance in embryos from a patient with a balanced reciprocal translocation

Molecular Human Reproduction
K E PierceM Zilberstein

Abstract

Duplications or deletions are present in a high percentage of the gametes produced by individuals carrying balanced translocations. Preimplantation genetic diagnosis was used to examine chromosome balance in embryos from a patient having a reciprocal translocation within the short arms of chromosomes 5 and 8 (46,XX,t(5;8)(p13;p23)). This woman has two sisters with the translocation unbalanced, resulting in a partial trisomy for chromosome 5 and partial monosomy for chromosome 8 (46,XX,-8, +der(8)t(5;8)(p13;p23)) with associated mental retardation and physical abnormalities. The patient and her husband desired to have children without the abnormal chromosome balance and wished to reduce the likelihood of spontaneous abortion or need for therapeutic abortion. Fluorescence in-situ hybridization (FISH) probes for the alpha-satellite region of chromosome 8 and for a region on the short arm of chromosome 5 (5p15.2) were tested initially on lymphocytes from the patient and her sisters. The hybridization signal for chromosome 5 was detected in the expected two copies for the patient and three copies for the sisters in 87% of the cells. Two hybridization signals for chromosome 8 were detected in 96% of the cells from all individuals. Ad...Continue Reading

Citations

Jun 17, 2000·Fertility and Sterility·S MunnéJ Cohen
Jun 1, 2001·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Y MénézoA Veiga
Sep 29, 2001·Molecular and Cellular Endocrinology·S Munné
Apr 12, 2007·Reproductive Biomedicine Online·Artem ShkumatovYury Verlinsky
Feb 7, 2013·European Journal of Human Genetics : EJHG·Paul N ScrivenCaroline Mackie Ogilvie
Jun 1, 2006·Reproduction : the Official Journal of the Society for the Study of Fertility·Aïda PujolJoaquima Navarro
Jul 31, 2004·American Journal of Obstetrics and Gynecology·Jone E SampsonSusan B Olson
Feb 8, 2000·Prenatal Diagnosis·J C Harper, D Wells
Jan 28, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Shalom Bar-AmiMoshe Zilberstein
Sep 18, 2001·Prenatal Diagnosis·T EscuderoS Munné
Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jie Xu, Zhong Chen
Feb 9, 1999·Prenatal Diagnosis·E D KimD J Lamb
Oct 9, 2004·Human Reproduction·C MelotteJ R Vermeesch

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