Centric fission of chromosome 7 with 47,XX,del(7)(pter----cen::q21----qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns.

Autor: Fryns JP, Kleczkowska A, Limbos C, Vandecasseye W, Van den Berghe H
Jazyk: angličtina
Zdroj: Annales de genetique [Ann Genet] 1985; Vol. 28 (4), pp. 248-50.
Abstrakt: In the present paper we report a characteristic pattern of external and internal malformations in two male siblings with proximal 7q interstitial deletion as the unbalanced product of a rearranged chromosome 7 in the mother with karyotype 47,XX,del(7)(pter----cen::q21----qter),+fr. The interstitial 7q deletion in the mother included centromeric fission, break at 7q21 and preservation of the proximal q arm fragment.
Databáze: MEDLINE