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Pericentric X chromosome ascertained during antenatal diagnosis
Author(s) -
Evans Mark I.,
Simpson Joe Leigh,
Larsons John W.,
Martin Alice O.,
Sarto Gloria E.,
Schulman Joseph D.
Publication year - 1980
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.1399-0004.1980.tb01361.x
Subject(s) - genetics , chromosomal inversion , prenatal diagnosis , x chromosome , biology , chromosome , karyotype , medicine , pregnancy , fetus , gene
A pericentric inversion of an X chromosome [46, X, inv(X)(pllq28)] with no detectable deletions was ascertained by amniocentesis for prenatal diagnosis in a 42‐year‐old woman. No definitive counsel could be offered as such an inversion had not been previously reported. At 1 year, the infant appears normal. These data and the review of other recently published karyotypes suggest an absence of a somatic position effect in the human X chromosome and possible biases of ascertainment or possible alternative karyotypic interpretations of some previously reported inv(X) cases.