Open AccessA new chromosome 18 variant in mother and holoprosencephalic child
Author(s) -
SHABTAY FIORELLA,
HALBRECHT ISAAC,
BÖÖK JAN A.
Publication year - 1976
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1976.tb01577.x
Subject(s) - holoprosencephaly , biology , genetics , allele , abnormality , chromosome , causation , gene , fetus , pregnancy , psychology , political science , law , social psychology
A new variant of chromosome 18 (18 Ch+ sat+) is reported. It was present in the normal mother and in her malformed child, who had a midline cleft of the face. The possibility that the variant was indirectly involved in the causation of the abnormality is discussed and, alternatively, the hemizygous expression of a recessive gene for holoprosencephaly by suppression of its normal allele.