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Inherited tandem duplication dup(X) (q131‐q212) in a male proband
Author(s) -
Vejerslev Lars O.,
Rix Mariane,
Jespersen Birthe
Publication year - 1985
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.1399-0004.1985.tb00220.x
Subject(s) - dup , proband , gene duplication , tandem exon duplication , genetics , biology , prenatal diagnosis , x chromosome , mutation , fetus , gene , pregnancy
A tandem duplication dup(X) (q131–q212) has been diagnosed neonatally because of the peculiar appearance. Family investigation demonstrated that the duplication has segregated through phenotypically normal female carriers for at least three generations. Inactivation studies showed that the aberrant X was preferentially late replicating. The difficulties related to prenatal diagnosis of minor X chromosome aberrations in males are discussed.