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一名可育女性及其47,XXX不育女儿中存在断点位于Xq22的X-常染色体易位。

X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.

作者信息

Madan K, Hompes P G, Schoemaker J, Ford C E

出版信息

Hum Genet. 1981;59(4):290-6. doi: 10.1007/BF00295460.

DOI:10.1007/BF00295460
PMID:7333583
Abstract

An unusual case is presented of a fertile woman heterozygous for a balanced X-autosome translocation t(X;12)(q22;p12) with a break-point (Xq22) in the critical region of the X chromosome. The karyotypes of her daughter, who is infertile, and one of her two sons are 47,XXX,t(X;12)(q22;p12) and 46,XY,t(X;12)(q22;p12) respectively. The literature on balanced X-autosome translocations in males and females involving both arms of the X chromosome is reviewed. All 23 of the 36 cases of females with balanced Xq-autosome translocation, that exhibited gonadal failure have a break-point between bands Xq13 and Xq26.U

摘要

本文报告了一例罕见病例，一名生育能力正常的女性为X染色体与常染色体平衡易位t(X;12)(q22;p12)的杂合子，其断点(Xq22)位于X染色体的关键区域。她不育的女儿和两个儿子中的一个的核型分别为47,XXX,t(X;12)(q22;p12)和46,XY,t(X;12)(q22;p12)。本文回顾了涉及X染色体双臂的男性和女性平衡X-常染色体易位的相关文献。在36例表现为性腺功能衰竭的Xq-常染色体平衡易位女性病例中，所有23例的断点均位于Xq13和Xq26带之间。

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1
X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.一名可育女性及其47,XXX不育女儿中存在断点位于Xq22的X-常染色体易位。
Hum Genet. 1981;59(4):290-6. doi: 10.1007/BF00295460.
2
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引用本文的文献

1
Detection of chromosome x;18 breakpoints and translocation of the xq22.3;18q23 regions resulting in variable fertility phenotypes.检测染色体X;18断点以及xq22.3;18q23区域的易位，这会导致不同的生育力表型。
Case Rep Genet. 2012;2012:681747. doi: 10.1155/2012/681747. Epub 2011 Nov 21.
2
Paracentric inversions: a review.臂间倒位：综述
Hum Genet. 1995 Nov;96(5):503-15. doi: 10.1007/BF00197403.
3
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

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Sex-Linked Recessive Lethals in Drosophila Whose Expression Is Suppressed by the Y Chromosome.果蝇中其表达受Y染色体抑制的伴性隐性致死基因。
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Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.一名智力发育迟缓男孩及其正常母亲的X染色体长臂“关键区域”存在间质性缺失。
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X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes.三例具有异常表型的X-常染色体易位患者淋巴细胞和皮肤成纤维细胞中的X染色体失活模式
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Balanced structural changes involving the human X: effect on sexual phenotype.涉及人类X染色体的平衡结构变化：对性表型的影响
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The genetics of human reproduction.人类生殖遗传学。
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Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.一名男性中发现的遗传性X染色体反向串联重复可追溯至祖父母的有丝分裂错误。
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Further observations on a 13qXp translocation associated with retinoblastoma.关于与视网膜母细胞瘤相关的13qXp易位的进一步观察。
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10
Possible X-autosomal translocation in a girl with gonadal dysgenesis.
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