不妊治療による46,XY,t(12;13)(q24.3;q32)の父親からの3胎(保健科学部)

概要

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We present triplet babies by a 46,XY,t(12;13)(q24.3;q32)father. The babies were the third pregnancy to healthy and unrelated parents. Conceived by fertility treatment (HMG-HCG therapy), they were born after a 31-week gestation by caesarean section. The first baby, a male infant, had a birth weight of 1,654g, and the same balanced translocation between chromosomes 12 and 13 as his father. The second baby, a female infant, with a birth weight of 878g died soon after her birth due to anencephaly. She showed a peculiar facial appearance accompanied by anencephaly including hypertelorism, narrow palpebral fissures, high nasal root, bulbous nose, micrognathia, and low-set ears. Her karyotype was 46,XX,der(12)t(12;i3) (q24.3;q32)pat, and she had a partial trisomy for 13q32→qter. The third baby, also female, had a birth weight of 1,446g and a normal karyotype. The phenotypes of the first and third babies were normal.
2006-03-25