PEDIATRICS Vol. 50 No. 6 December 1972, pp. 908-911
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PARENTAL MOSAICISM IN TRISOMY 18

Nicholas G. Beratis M.D.1, Nataline B. Kardon M.D.1, Lillian Y. F. Hsu M.D.1, Dora Grossman B.S.1, and Kurt Hirschhorn M.D.1

1 Department of Pediatrics, Division of Medical Genetics, Mount Sinai School of Medicine of the City University of New York

Five cases of trisomy 18 were diagnosed in our laboratory during the period of February to July 1970. The parents of these patients were investigated for their chromosomal constitution, thyroid autoantibody (TA) titer, and the presence of hepatitis-associated antigen (HAA). Definite trisomy 18 mosaicism was detected in one of the fathers, while in the leukocyte cultures of one of the mothers two out of 100 metaphases examined were found to have an extra No. 18 chromosome. No case with increased TA titer was found and all of the parents were HAA-negative. Elevated IgM levels were observed in two of the three patients studied. In one of them the IgA was also elevated. The findings of this study suggest that the parents of children with trisomy 18 should be investigated for their chromosomal constitution. This is particularly indicated if the mothers are young.

Submitted on May 3, 1972
Accepted on August 23, 1972




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