Cytogenetic studies in reproductive loss

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Abstract
Cytogenetic studies were performed on 57 families with pregnancy wastage (e.g., 2 or more spontaneous abortions or stillbirths). Chromosomal abnormalities were ascertained in 17 couples, through offspring with congenital malformations. Seven families had children with neural tube defects, and 5 families also had a previous child with Downs syndrome. One mother had mosaic Turner syndrome; 2 additional mothers and 1 father had balanced chromosome translocations. Chromosome analyses should be performed on every couple with repeated miscarriages or malformed children, and subsequent pregnancies at risk should be monitored by amniocentesis.

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