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.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000311:Adrenal Glands / Q000002:abnormalities; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male