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Prenatal detection of an inverted X chromosome in a male
Author(s) -
Brothman Arthur R.,
Newlin Anna,
Phillips Susan E.,
Kinzie Gretchen Q.,
Leichtman Lawrence G.
Publication year - 1993
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.1399-0004.1993.tb03864.x
Subject(s) - chromosomal inversion , karyotype , biology , chromosome , genetics , fetus , prenatal diagnosis , peripheral blood , pregnancy , x chromosome , immunology , gene
Brothman AR, Newlin A, Phillips SE, Kinzie GQ, Leichtman LG. Prenatal detection of an inverted X chromosome in a male. Clin Genet 1993: 44: 139–141. © Munksgaard, 1993 An unusual case of an X chromosome with a pericentric inversion (p11.3q21.3) was detected prenatally in a male fetus. This inversion has not been previously characterized. Although the inverted chromosome was transmitted through the mother, no living males on the maternal side were detected with the aberrant chromosome. Replication studies were performed on cultures of maternal peripheral blood lymphocytes, and it was determined that the inverted X chromosome was early replicating in approximately half of the cells. Following genetic counseling, the pregnancy was continued and a healthy male infant was delivered at term. Cytogenetic analysis of peripheral blood performed in the newborn period confirmed the prenatal findings. The child is developing normally at 3 years of age.