Two Unusual Cases of Familial Mongolism

Homologous Robertsonian translocation (21q21q) and abortions

“…Familial incidence of Down's syndrome appears to be the result of the inheritance of a translocation (21q21q). Forssman and Lehmann (1962) and Dallaire and Fraser (1964) reported the occurrence of t(21q21q) in the male partners of couples with recurrent abortions and in their offspring with Down's syndrome, as observed in couple RA1 of the present study. Transmission of t(21q21q) from a mother to her offspring, as seen in the other couple (RA81), has been reported by various investigators (Hamerton et al 1961;Furbetta et al 1973;Creau-Goldberg et al 1987).…”

Down Syndrome and Recurrent Abortions Resulting from Robertsonian Translocation 21q21q

“…Abortions at an early gestational age have been attributed to monosomy and the fetuses are assumed to be nonviable. 7,8 Transmission of (21q21q) to offspring is not always from the mother; there are reports of paternal transmission. 8,9 The resulting pattern of Down syndrome and abortion would be the same as with transmission from the mother.…”

“…7,8 Transmission of (21q21q) to offspring is not always from the mother; there are reports of paternal transmission. 8,9 The resulting pattern of Down syndrome and abortion would be the same as with transmission from the mother. Moreover, Sudha and Gopinath 10 reported balanced Robertsonian translocation between two couples with a history of repeated abortions.…”

Reproduction in a woman with low percentage t(21q21q) mosaicism.

“…The importance of examining as many parental tissues as possible for the detection of low percentage mosaicism is stressed. Dallaire and Fraser (1964) reported a family in which 3 children in succession had Down syndrome caused by primary trisomy 21. Lymphocyte cultures of the parents were cytogenetically normal, but other tissues were not studied.…”