A unique 7p/12q chromosomal abnormality associated with recurrent abortion and hypofibrinogenemia

A unique 7p/12q chromosomal abnormality associated with recurrent abortion and hypofibrinogenemia.

Recurrent first trimester abortions led to evaluation of a 25-year-old woman. Studies revealed she had hypofibrinogenemia (68 mg/dL) without evidence of dysfibrinogenemia or increased fibrinogen turnover. She was also found to have a unique 46,XX, t(7;12) (p 15.2;q24.31) karyotype. Hypofibrinogenemia and identical chromosomal abnormalities were found in other members of her kindred. Southern bl...

Chromosomal Abnormality in Men with Impaired Spermatogenesis

A fatal congenital defect associated with a unique chromosome abnormality.

Case Report Maternal History. The father and mother were both aged 39 and were first cousins. There was no maternal history of radiation. This was the seventh pregnancy. She had had a previous stillbirth, but all babies with the exception of the present had been born at home. The 5 children, aged from 3 to i6 years, were alive and well. A normal live child was born to the parents I9 months afte...

Structural chromosomal abnormalities in couples with recurrent abortion in Egypt.

BACKGROUND/AIM To evaluate the incidence of chromosomal abnormalities in couples who experience recurrent abortion and identify additional factors that may be predictive of abortion, such as parental age and unfavorable obstetric or abnormal semen analysis. MATERIALS AND METHODS The present study examined 125 couples who had experienced recurrent abortion. All subjects provided a detailed per...

Chromosomal abnormality associated with congenital macroglossia and other abnormalities.

Armendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J. M. (1972). A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. Journal of Medical Genetics, 9, 96-100. Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and vari...