特纳综合征（作者译）
[Turner's syndrome (author's transl)].
作者信息
Lledó G, Lama R, Gracia R, Barrio R, Yturriaga R, Nieto J, Peralta A, Barreiro E
出版信息
An Esp Pediatr. 1977 May;10(5):467-72.
PMID:900663
Abstract
Twenty cases of Turner's syndrome are presented. Ten cases showed cariotype XO, nine XO/XX and one case showed mosaicism with three cell lines one of which showed a ring chromosome (XO/XX/XXr). The clinical characteristics of syndrome and the associated malformations are appraised. Commentaries are made about ultimate height attained by this patients.
摘要
本文报告了20例特纳综合征患者。其中10例核型为XO，9例为XO/XX，1例为具有三种细胞系的嵌合体，其中一种细胞系显示为环状染色体（XO/XX/XXr）。对该综合征的临床特征及相关畸形进行了评估。对这些患者最终达到的身高进行了讨论。
相似文献
1
[Turner's syndrome (author's transl)].特纳综合征（作者译）
An Esp Pediatr. 1977 May;10(5):467-72.
2
[Cytogenetic and clinical findings in suspected Turner's syndrome: results of a five-year study of 207 patients (author's transl)].疑似特纳综合征的细胞遗传学及临床研究结果：207例患者的五年研究成果（作者译）
Dtsch Med Wochenschr. 1976 Apr;101(14):532-7. doi: 10.1055/s-0028-1104110.
3
Laparoscopy in endocrine and genetic disorders of the gonads.腹腔镜检查在性腺内分泌和遗传性疾病中的应用。
Acta Endocrinol Suppl (Copenh). 1975;192:1-124.
4
[Diagnosis of Turner's syndrome in childhood. A further contribution to the problem of the heredity of XO-XX mosaicism].[儿童特纳综合征的诊断。对XO-XX嵌合体遗传问题的进一步探讨]
Minerva Pediatr. 1968 Feb 11;20(6):303-7.
5
[Mosaicism XX-XO-XXS-XS-XX?i in a woman-patient with Turner's syndrome].[一名患有特纳综合征的女性患者中的XX-XO-XXS-XS-XX?i嵌合体]
Wien Klin Wochenschr. 1968 Aug 2;80(31):601-3.
6
[A report of 2 cases of Turner's syndrome with a ring X chromosome].[两例伴有X染色体环状结构的特纳综合征报告]
Minerva Pediatr. 1991 Sep;43(9):605-9.
7
[Statistical analysis of the number of karyotypes to be examined in order to diagnose a Turner patient (45, XO) and the number necessary to differentiate the Turner (45, XO) from a mosaic patient (45, OX/46, XX) (author's transl)].为诊断特纳氏综合征患者（45，XO）所需检查的核型数量以及将特纳氏综合征患者（45，XO）与嵌合型患者（45，OX/46，XX）区分开来所需的核型数量的统计分析（作者译）
Rinsho Byori. 1979 Dec;27(12):1087-90.
8
[Mosaicism 46 XX-45 X; height-weight deficit, pseudo-microcephalus without other sign of Turner's syndrome].[嵌合体46 XX - 45 X；身高体重不足，假性小头畸形，无特纳综合征其他体征]
Rev Neurol (Paris). 1970 Dec;123(6):451-2.
9
[Turner's syndrome. Clinical characteristics and cytogenetic findings in 11 cases].[特纳综合征。11例临床特征及细胞遗传学发现]
Rev Med Chil. 1971 Feb;99(2):125-8.
10
[Turner's syndrome: mosaic 45,XO; 46,XX; 47,XXX. Clinical and karyogenetic study].[特纳综合征：嵌合体45，XO；46，XX；47，XXX。临床及细胞遗传学研究]
Arch Ostet Ginecol. 1980 Sep-Oct;85(5):387-95.
Zotero 插件