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一名表型男性存在45,X/46,X dic (Y) 嵌合体。

45,X/46,X dic (Y) mosaicism in a phenotypic male.

作者信息

Batstone P J, Faed M J, Jung R T, Gosden J

机构信息

Department of Pathology, Ninewells Hospital and Medical School, Dundee.

出版信息

Arch Dis Child. 1991 Feb;66(2):252-3. doi: 10.1136/adc.66.2.252.

DOI:10.1136/adc.66.2.252
PMID:2001114
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1792831/
Abstract

Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.

摘要

细胞遗传学分析经原位杂交研究证实，一名14岁男孩的核型为45,X/46,X dic (Y) (q12) 嵌合体，该男孩最初被诊断为努南综合征。他对重组生长激素有早期反应；这表明这种治疗可能会改善最终身高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff3e/1792831/11a666c31a34/archdisch00653-0090-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff3e/1792831/c2586d0f6888/archdisch00653-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff3e/1792831/11a666c31a34/archdisch00653-0090-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff3e/1792831/c2586d0f6888/archdisch00653-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff3e/1792831/11a666c31a34/archdisch00653-0090-b.jpg

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引用本文的文献

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Mol Med Rep. 2017 Jul;16(1):201-207. doi: 10.3892/mmr.2017.6569. Epub 2017 May 10.
2
Defective growth hormone (GH) secretion and short-term treatment in Noonan syndrome.努南综合征中生长激素（GH）分泌缺陷及短期治疗
Indian J Pediatr. 1998 Sep-Oct;65(5):741-9. doi: 10.1007/BF02731057.
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Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.

本文引用的文献

1
Nonfluorescent Y chromosomes. Cytologic evidence of origin.非荧光性Y染色体。起源的细胞学证据。
Hum Genet. 1982;60(2):133-8. doi: 10.1007/BF00569699.
2
Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype.45,X/46,XY核型患者的临床和内分泌谱
Hum Genet. 1981;58(4):373-6. doi: 10.1007/BF00282818.
3
Gonadoblastoma and Y-chromosome fluorescence.性腺母细胞瘤与Y染色体荧光
等臂双着丝粒Y染色体：细胞遗传学、分子学及临床研究与文献综述
Hum Genet. 1995 Jul;96(1):119-29. doi: 10.1007/BF00214200.
4
A clinical study of Noonan syndrome.努南综合征的临床研究。
Arch Dis Child. 1992 Feb;67(2):178-83. doi: 10.1136/adc.67.2.178.
Clin Genet. 1986 Apr;29(4):311-6. doi: 10.1111/j.1399-0004.1986.tb01259.x.
4
Phenotypic spectrum of 45,X/46,XY individuals.45,X/46,XY个体的表型谱。
Am J Med Genet. 1987 Jul;27(3):553-9. doi: 10.1002/ajmg.1320270308.
5
Update on growth hormone therapy for Turner's syndrome.特纳综合征生长激素治疗的最新进展。
Acta Paediatr Scand Suppl. 1989;356:103-8; discussion 109-10. doi: 10.1111/j.1651-2227.1989.tb11258.x.