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Turner syndrome with rare karyotypes.

作者信息

Boczkowski K, Mikkelsen M, Poulsen H

出版信息

Clin Genet. 1978 May;13(5):409-14. doi: 10.1111/j.1399-0004.1978.tb04139.x.

DOI:10.1111/j.1399-0004.1978.tb04139.x
PMID:657581
Abstract

Five cases of Turner syndrome with rare karyotypes are presented. The spectrum of chromosomal findings ranges from a female karyotype with a deletion of the short arm of one X chromosome, to a normal male karyotype. The following karyotypes were found: one case with 46,XXp--; two cases with 45,X/46,X,r(X); one case with 45,X/47,XYY; and one case with 46,XY.

摘要

相似文献

1
Turner syndrome with rare karyotypes.
Clin Genet. 1978 May;13(5):409-14. doi: 10.1111/j.1399-0004.1978.tb04139.x.
2
Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.四名患有Xq重复和Xp缺失的女孩的部分特纳综合征。
Hum Genet. 1982;61(1):12-7. doi: 10.1007/BF00291323.
3
Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism.人类X染色体长臂等臂染色体的C带数量及其与45,X嵌合体的关系。
J Med Genet. 1978 Jun;15(3):222-6. doi: 10.1136/jmg.15.3.222.
4
Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome).
Br J Haematol. 1976 Sep;34(1):129-35. doi: 10.1111/j.1365-2141.1976.tb00181.x.
5
[2 cases of structural anomalies of X chromosome with a 46,XXp karyotype].
Ginekol Pol. 1975 Aug;46(8):893-9.
6
[Y chromosome structural abnormalities and Turner's syndrome].[Y染色体结构异常与特纳综合征]
Gynecol Obstet Fertil. 2009 Jun;37(6):511-8. doi: 10.1016/j.gyobfe.2009.04.018. Epub 2009 May 22.
7
Cytogenetic findings in 125 patients with Turner's syndrome and abnormal karyotypes.125例特纳综合征且核型异常患者的细胞遗传学研究结果
J Genet Hum. 1977 Jun;25(2):95-107.
8
[Duplication of an X chromosome in a case of Turner's syndrome (45,X-46,XXp+)].[特纳综合征（45,X-46,XXp+）病例中的X染色体重复]
Ann Genet. 1970 Dec;13(4):245-8.
9
Complete deletion of long arm of X chromosome in woman without Turner syndrome.无特纳综合征女性X染色体长臂完全缺失。
Lancet. 1981 May 23;1(8230):1158-9. doi: 10.1016/s0140-6736(81)92324-2.
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Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes.89例核型异常的特纳综合征的细胞遗传学研究结果
Humangenetik. 1974;24(2):93-104. doi: 10.1007/BF00283766.

引用本文的文献

1
Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.性染色体畸变与身高：推导成年身高决定中的主要影响因素。
Hum Genet. 1993 Jul;91(6):551-62. doi: 10.1007/BF00205079.
2
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.特纳综合征与女性性染色体畸变：推导临床特征发展中涉及的主要因素。
Hum Genet. 1995 Jun;95(6):607-29. doi: 10.1007/BF00209476.
3
Structural anomalies of the X chromosome and inactivation center.
X染色体的结构异常与失活中心。
Hum Genet. 1981;56(3):401-8. doi: 10.1007/BF00274702.
4
Inactivation centers in the human X chromosome.人类X染色体上的失活中心
Am J Hum Genet. 1982 Mar;34(2):182-94.
5
Height of females with pure gonadal dysgenesis and normal male or female karyotype.
Hum Genet. 1985;70(1):80-1. doi: 10.1007/BF00389464.
6
The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.人类女性中Xp和Xq缺失所导致的表型效应的相似性：一种假说。
Hum Genet. 1990 Jul;85(2):175-83. doi: 10.1007/BF00193192.
7
Phenotypic vs. genotypic sex and cognitive abilities.表型性别与基因型性别及认知能力
Behav Genet. 1979 Jul;9(4):317-22. doi: 10.1007/BF01068210.