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Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.

作者信息

Hoefnagel D, Wuster-Hill D H, Dupree W B, Benirschke K, Fuld G L

出版信息

Clin Genet. 1978 Jun;13(6):489-99. doi: 10.1111/j.1399-0004.1978.tb01204.x.

DOI:10.1111/j.1399-0004.1978.tb01204.x
PMID:566645
Abstract

We have studied two female newborns with comptomelic dwarfism, XY-gonadal dysgenesis and chromosome anomalies. The preponderance of "females" among the hitherto reported cases of this allegedly autosomal recessive form of lethal drawfism may be due to an increased incidence of an associated XY-gonadal dysgenesis.

摘要

相似文献

1
Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.
Clin Genet. 1978 Jun;13(6):489-99. doi: 10.1111/j.1399-0004.1978.tb01204.x.
2
Pathogenetics of 45,X/46,XY gonadal mosaicism.45,X/46,XY性腺嵌合症的致病遗传学
Cytogenet Cell Genet. 1998;82(1-2):52-7. doi: 10.1159/000015064.
3
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas.
South Med J. 1979 Sep;72(9):1163-5. doi: 10.1097/00007611-197909000-00025.
4
XY gonadal dysgenesis.
Lancet. 1979 Jan 27;1(8109):209. doi: 10.1016/s0140-6736(79)90601-9.
5
Gonadal dysgenesis.
Clin Obstet Gynecol. 1977 Sep;20(3):565-79. doi: 10.1097/00003081-197709000-00007.
6
Dicentric Y chromosome and mixed dysgenesis.双着丝粒Y染色体与混合性发育不全
J Urol. 1988 Jan;139(1):91-4. doi: 10.1016/s0022-5347(17)42303-2.
7
46,XY pure gonadal dysgenesis with non-fluorescent Y chromosome.
Clin Genet. 1978 Aug;14(2):83-9. doi: 10.1111/j.1399-0004.1978.tb02111.x.
8
XY sex-reversed campomelia- possibly an X-linked disorder?XY性反转性先天性软骨发育不全——可能是一种X连锁疾病？
Clin Genet. 1979 Jul;16(1):62-3. doi: 10.1111/j.1399-0004.1979.tb00852.x.
9
[Gonadal tumor and Y chromosome].
Zhonghua Fu Chan Ke Za Zhi. 1993 Dec;28(12):728-30, 760.
10
XY gonadal dysgenesis associated with hGH and gonadotrophin deficiencies.与生长激素和促性腺激素缺乏相关的XY性腺发育不全
Clin Genet. 1979 May;15(5):369-76. doi: 10.1111/j.1399-0004.1979.tb01768.x.

引用本文的文献

1
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.SOX9基因发生突变，该基因与弯肢性发育异常和常染色体性反转有关。
Am J Hum Genet. 1995 Nov;57(5):1028-36.
2
XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis.XY性腺发育不全：基于临床观察、H-Y抗原状态和分离分析的遗传异质性
Hum Genet. 1981;58(1):91-7. doi: 10.1007/BF00284155.
3
XY Sex-reversed campomelia.
Eur J Pediatr. 1981 Sep;137(1):59-61. doi: 10.1007/BF00441171.
4
Absence of H-Y antigen in an XY female with campomelic dysplasia.一名患有弯肢侏儒症的XY女性体内缺乏H-Y抗原。
Hum Genet. 1981;57(1):23-7. doi: 10.1007/BF00271161.