Premium
Human chromosome polymorphism and congenital malformations
Author(s) -
Halbrecht Isaac,
Shabtay Fiorella
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb00022.x
Subject(s) - heterochromatin , congenital malformations , genetics , biology , polymorphism (computer science) , chromosome , allele , gene , pregnancy
Several authors have suggested that heterochromatin polymorphism influences the origin and/or development of different malformations. In this investigation special consideration was given to the Ajqh+ variant. Several families with this variant are reported in which the incidence of otherwise rare malformations is surprisingly high. The possibility that the Aiqh+ variant or, more probably, interactions between all types of heterochromatin polymorphism are of pathogenetic significance is considered.