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患有三X染色体综合征的埃及女性及其唐氏综合征后代。

Triple X Egyptian woman and a Down's syndrome offspring.

作者信息

El-Dahtory Faeza Abdel Mogib

机构信息

Genetic Unit of Children Hospital, Mansoura University, Mansoura, Egypt.

出版信息

Indian J Hum Genet. 2013 Jan;19(1):111-2. doi: 10.4103/0971-6866.112925.

Abstract

The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. We describe a new rare case of triple X woman and a Down's syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down's syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) Figure 1. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) Figure 2. The patient's husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (46, XY). There are neither Consanguinity between her parent's nor she and her husband.

摘要

47, XXX核型(XXX三体)在女性新生儿中的发生率为千分之一。然而,这种核型在出生时或儿童期通常不会被怀疑。患有性染色体异常的女性患者可能具有生育能力。在具有47, XXX细胞系的患者中,生育细胞遗传学异常孩子的风险似乎有所增加,但这种风险的程度尚未确定;非嵌合型47, XXX患者的风险可能低于嵌合型46, XX/47, XXX患者。我们描述了一例新的罕见XXX三体女性及一名患有唐氏综合征后代的病例。患者26岁,是一名家庭主妇,身高160厘米,体重68千克,身体特征和智力正常。她在25岁时曾怀孕一次,产下一名患有唐氏综合征的女孩。该患儿有47条染色体,为21三体(47, XX, +21)(图1)。患者自身也有47条染色体,核型为XXX三体(47, XX, +X)(图2)。患者的丈夫(27岁)身体和智力均正常,有46条染色体,核型为正常XY(4, XY)。她的父母之间以及她和她丈夫之间均无血缘关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4669/3722621/851575fdaef7/IJHG-19-111-g001.jpg

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