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Familial Down's syndrome A cytogenetical and genealogical study of twenty‐two families
Author(s) -
MIKKELSEN MARGARETA
Publication year - 1966
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1966.tb00013.x
Subject(s) - chromosomal translocation , pedigree chart , karyotype , trisomy , genetics , biology , down syndrome , chromosome , gene
Summary The pedigrees and cytology of 22 families with Down's syndrome in more than 1 member are presented. In 10 families the patients were sibs, in 6 families cousins or more closely related, and in 6 families they were more distant relatives. Inherited 13–15/21 translocation was the cause of multiple occurrence of Down's syndrome in 4 families. In the other families the patients were found to have the standard trisomy 21 karyotype. No isolated translocations were observed and no other translocation type was found. In one family a ‘marker’ D chromosome and in another family a small Y chromosome were observed. One patient showed possible mosaicism with trisomy 21 and a few normal cells.