PARENTAL TRISOMY 21 MOSAICISM
Authors:
- DJ HARRISDHDJ HARRIS
- ML BEGLEITERMBML BEGLEITER
- J CHAMBERLINJCJ CHAMBERLIN
- L HANKINSLHL HANKINS
- RE MAGENISRMRE MAGENIS
- 1 January 1982
- journal article
- research article
- Vol. 34 (1) , 125-133
Abstract
A family with 3 children with trisomy 21 in which the mother is a phenotypically normal, trisomy 21/normal mosaic was studied. Chromosome 21 fluorescent heteromorphisms were used to document that 2 of the 3 number 21 in 2 of the Down''s syndrome offspring were of maternal origin. Five cytogenetic surveys in which both parents of a child with trisomy 21 were studied were reviewed. Of couples producing a child with trisomy 21, 3% can be explained by parental mosaicism. From 17 informative sibships, with 1 parent mosaic, the segregation ratio was estimated to be 0.43 .+-. 0.11.Keywords
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