A reciprocal chromosome translocation between 7q and 10q and an unrelated Robertsonian translocation involving 14q and 21q were found in a healthy 44-year-old man, in his normal 18-year-old son, and in his mother. They were ascertained through the man's brother, whose grandson has Down's syndrome as a result of an inherited 14q21q translocation. To our knowledge, this is the second report of a ...

background: approximately 205 million pregnancies occur each year in the worldwide. on the other hand, spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. the most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with...

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: ...

Three males with Robertsonian translocations were found in a sample of 1115 males examined for military service. One was a 14/15 translocation, and two were 13/14 translocations. One was spontaneous and two familial. The segregation rate of the translocations did not deviate significantly from unity in the sibships where the mother was the carrier, whereas all five children had the translocatio...

Two case histories are presented documenting structural chromosome abnormalities in infertile males. The abnormalities were detected only after application of intracytoplasmic sperm injection (ICSI) was repeatedly unsuccessful or resulted in an abnormal pregnancy. A mosaic Robertsonian translocation 45,XY,der(13;13)(q10; q10)/46,XY,t(13;13)(p10;p10), der(13p;13p) incompatible with normal offspr...

AIM The purpose of the present research was a presentation of case report of Robertsonian translocation composed of homologous chromosomes 21q;21q and reproductive risk found in the family affected by this type oftranslocation. METHODS Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead method. RESULTS Analyses of cytogene...

We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X sy...