一名患有异常性染色体嵌合体女孩的发育异常情况。 - Suppr

Suppr

超能文献

Anomalies of development in a girl with unusual sex chromosomal mosaicism.

作者信息

Thorburn M J, Miller C G, Dovey P

出版信息

J Med Genet. 1967 Dec;4(4):283-7. doi: 10.1136/jmg.4.4.283.

DOI:10.1136/jmg.4.4.283

PMID:6082908

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468556/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5930/1468556/ebc1387e0ce4/jmedgene00383-0058-a.jpg

相似文献

Anomalies of development in a girl with unusual sex chromosomal mosaicism.一名患有异常性染色体嵌合体女孩的发育异常情况。

J Med Genet. 1967 Dec;4(4):283-7. doi: 10.1136/jmg.4.4.283.

[Gonadal dysgenesis with an unusual structural anomaly in an X chromosome (45,X-46,XXq+)].[伴有X染色体异常结构异常（45,X-46,XXq+）的性腺发育不全]

Humangenetik. 1972;14(4):285-99. doi: 10.1007/BF00290170.

Pure gonadal dysgenesis; clinical and genetic studies.单纯性腺发育不全；临床与遗传学研究

Mater Med Pol. 1973 Jul-Sep;5(3):197-202.

Non-fluorescent Y-chromosome.非荧光Y染色体。

Helv Paediatr Acta. 1974 Nov;29(5):447-56.

[Apropos of a cas of ring chromosome X].[关于一例X染色体环状染色体病例]

Ann Genet. 1968 Mar;11(1):56-8.

X-ray study on congenital gonadal dysgenesis (Turner's syndrome).先天性性腺发育不全（特纳综合征）的X线研究

Chin Med J (Engl). 1985 Mar;98(3):165-70.

XX-XO complex of sex chromosomes in a child with an unusual phenotype.一名具有异常表型儿童的性染色体XX-XO复合体。

Sov Genet. 1973 Aug;7(2):250-5.

[Cytogenetic studies of women with the clinical forms of gonadal dysgenesis].[具有性腺发育不全临床类型女性的细胞遗传学研究]

Akush Ginekol (Sofiia). 1979;18(5):341-4.

[Gonadal dysgenesis with female phenotype].[具有女性表型的性腺发育不全]

Acta Paediatr Belg. 1969;23(6):331-72.

Sex chromosome mosaicism in disorders of sexual differentiation: incidence in various tissues.性发育障碍中的性染色体嵌合体：不同组织中的发生率。

J Pediatr. 1970 May;76(5):739-44. doi: 10.1016/s0022-3476(70)80294-3.

引用本文的文献

Possible X-autosomal translocation in a girl with gonadal dysgenesis.

J Med Genet. 1970 Dec;7(4):402-6. doi: 10.1136/jmg.7.4.402.

Two human X-autosome translocations identified by autoradiography and fluorescence.通过放射自显影和荧光鉴定出的两个人类X染色体与常染色体的易位。

Am J Hum Genet. 1972 Sep;24(5):583-97.

[Gonadal dysgenesis with an unusual structural anomaly in an X chromosome (45,X-46,XXq+)].[伴有X染色体异常结构异常（45,X-46,XXq+）的性腺发育不全]

Humangenetik. 1972;14(4):285-99. doi: 10.1007/BF00290170.

Abnormal X chromosomes in man: origin, behavior and effects.人类异常X染色体：起源、行为及影响

Humangenetik. 1974;25(1):1-16. doi: 10.1007/BF00281002.

Identification of a large submetacentric X chromosome as pericentric inversion of an isochromosome of the long arm.鉴定一条大的亚中着丝粒X染色体为长臂等臂染色体的臂间倒位。

Humangenetik. 1974 May 17;22(2):171-5. doi: 10.1007/BF00278457.

Apparently isodicentric but functionally monocentric X chromosome in man.人类中明显等臂双着丝粒但功能上为单着丝粒的X染色体。

Am J Hum Genet. 1974 Jan;26(1):83-92.

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.人类X染色体与常染色体易位：一个患有X-9易位的家族中X染色体的差异失活

Am J Hum Genet. 1975 Jul;27(4):441-53.

Structural X-chromosome abnormality in a female with gonadal dysgenesis.一名患有性腺发育不全的女性的X染色体结构异常。

Humangenetik. 1975;26(2):133-8. doi: 10.1007/BF00278440.

本文引用的文献

Gonadal dysgenesis. Clinical and roentgenologic manifestations.

Am J Roentgenol Radium Ther Nucl Med. 1962 Jun;87:1116-27.

Congenital kidney anomalies in Turner's syndrome.

Acta Endocrinol (Copenh). 1955 Apr;18(4):548-54.

A CASE OF PRIMARY AMENORRHEA WITH A TRANSLOCATION INVOLVING CHROMOSOMES OF GROUPS B AND C.一例原发性闭经合并B组和C组染色体易位的病例。

Am J Hum Genet. 1965 Sep;17(5):377-83.

KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.性腺发育不全中的核型-表型相关性及其对畸形发病机制的影响

J Med Genet. 1965 Jun;2(2):142-55. doi: 10.1136/jmg.2.2.142.

CYTOGENETIC AND CLINICAL FINDINGS IN 48 PATIENTS WITH CONGENITALLY DEFECTIVE OR ABSENT OVARIES.48例先天性卵巢缺陷或缺失患者的细胞遗传学和临床研究结果

Medicine (Baltimore). 1965 Mar;44:135-64. doi: 10.1097/00005792-196503000-00002.

A VERY LARGE METACENTRIC CHROMOSOME IN A WOMAN WITH SYMPTOMS OF TURNER'S SYNDROME.一名患有特纳综合征症状的女性体内的一条非常大的中着丝粒染色体。

Cytogenetics. 1964;3:427-40. doi: 10.1159/000129831.

THE RADIOGRAPHIC MANIFESTATIONS OF GONADAL DYSGENESIS.性腺发育不全的影像学表现

Radiol Clin North Am. 1964 Aug;2:297-313.

Skeletal abnormalities associated with gonadal dysgenesis.与性腺发育不全相关的骨骼异常。

Am J Roentgenol Radium Ther Nucl Med. 1963 Jun;89:1222-35.

The deformity of the medial tibial condyle in nineteen cases of gonadal dysgenesis.19例性腺发育不全患者的胫骨内侧髁畸形

J Bone Joint Surg Am. 1960 Jun;42-A:600-4.

Urinary tract anomalies in gonadal dysgenesis.性腺发育不全中的泌尿系统异常。

Am J Roentgenol Radium Ther Nucl Med. 1965 Oct;95(2):439-41. doi: 10.2214/ajr.95.2.439.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验