A male infant with monosomy 21.

Autor: Kaneko, Yasuhiko, Ikeuchi, Tatsuro, Sasaki, Motomichi, Satake, Yoshio, Kuwajima, Shigeru
Zdroj: Humangenetik (00187348); 1975, Vol. 29 Issue 1, p1-7, 7p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index