Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 17 (5) , 341-348
- https://doi.org/10.1111/j.1399-0004.1980.tb00160.x
Abstract
The proband in this family has translocation Down''s syndrome 46, XX, t(14;21)(p11;q11), and this translocation was present in other family members. Sex chromosome mosaicism was demonstrated in 3 generations of the family, providing another example of familial mosaicism. There was excessive, fetal wastage in different family members. It was not possible to assign 1 common etiological factor to account for these various abnormalities. Dermatoglyphic studies showed dominant inheritance of fingertip arch patterns in 1 branch of the family.Keywords
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