Prenatal Diagnosis of De Novo Reciprocal Translocation t(1;12)(q21.3;p11.2) with Trisomy 21 and Sperm FISH Analysis for Increased Aneuploidy Risk

A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei.

Fluorescent in situ hybridization (FISH) with a 21q11-specific probe (CB21c1) consisting of three non-overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N = 19 and 28, respectively). In the uncultured amniocytes, six chromosome...

Sperm chromosome analysis in the father of a child with a de-novo reciprocal translocation t(11;15)(q12;q22) by G-banding and fluorescence in-situ hybridization.

Analysis of sperm chromosomes by G-banding and two-colour fluorescence in-situ hybridization (FISH) was carried out in the father of a child with a de-novo reciprocal translocation t(11;15)(q12;q22). Sperm chromosome complements were obtained after in-vitro fusion of zona-free hamster oocytes and donor spermatozoa. A total of 112 sperm complements was first analysed by G-banding. The frequency ...

Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Assignment of the bovine tumor protein D52 gene (TPD52) to the distal half of BTA14 with somatic and radiation cell hybrid panel mapping.

247 Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D, Sele B: Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes. Hum Genet 96: 655–660 (1995). Rubes J, Vozdova M, Kubickova S: Aneuploidy in pig sperm: multicolor fl uorescence in situ hybridization using probes for chromosomes 1, 10, and Y. Cytogenet Cell Genet 85: ...