An Additional Case of Partial Trisomy 22 with Multiple Clinical Malformations

Congenital heart disease in supernumerary der(22), t(11;22) syndrome

“…. A discussion concerning the nature of the abnormalities of chromosome 22 in these patients has ensued with attempts to differentiate "complete" (Shokeir 1978), "partial" (Garlinger et al 1977, Lalchev et al 1978, Kadotani et al 1978, Fryns et al 1980, Schinzel I1 1981, Bendel et al 1982, Kosztolanyi & Buhler 1985, and "mosaic" (Mollica et al 1977, Schinzel 111 1981 trisomy forms. It is suspected that true complete trisomy 22 is incompatible with life (Schinzel 1983), although one patient with apparent complete trisomy 22 mosaicism is known (Schinzel 111 1981).…”