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科威特的18三体综合征聚集现象。

Trisomy 18 clustering in Kuwait.

作者信息

Naguib K K, Al-Awadi S A, Marafie M J, Al-Hijji S Y

机构信息

Kuwait Medical Genetics Centre, Maternity Hospital, Safat.

出版信息

Clin Genet. 1987 Dec;32(6):379-82. doi: 10.1111/j.1399-0004.1987.tb03153.x.

Abstract

Thirteen cases of trisomy 18 (T18) were ascertained clinically and cytogenetically during the period 1984-1986. Eight cases were delivered during 1986 in the Maternity Hospital out of 17,318 live births, making an incidence of 4.61/10,000, which is significantly higher than the international incidence as well as the incidence in previous years. The female-to-male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40. There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.

摘要

1984年至1986年期间,通过临床和细胞遗传学方法确诊了13例18三体综合征(T18)病例。1986年,在妇产医院的17318例活产中有8例分娩,发病率为4.61/10000,显著高于国际发病率以及前几年的发病率。男女比例为1.8/1,母亲年龄中位数为32.5岁,父亲年龄中位数为40岁。无羊水过多病史。5例剖宫产分娩,4例在新生儿期死亡。所有病例均证实为完全型18三体,未检测到嵌合体;1例检测到父母9号染色体倒位。

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