A male infant with monosomy 21
- 1 January 1975
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 29 (1) , 1-7
- https://doi.org/10.1007/bf00273344
Abstract
A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karyotypically normal.Keywords
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