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严重智力缺陷、匀称性侏儒症和性发育延迟。一种独特的遗传综合征。

Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

作者信息

Cantú J M, Sánchez-Corona J, García-Cruz D, Fragoso R

出版信息

Hum Genet. 1980;56(2):231-4. doi: 10.1007/BF00295702.

DOI:10.1007/BF00295702
PMID:7450781
Abstract

Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

摘要

发现两名46,XY兄弟患有一种先前未描述的综合征，其特征为严重智力缺陷、匀称性侏儒症和性发育延迟。假定为隐性遗传模式，可能是常染色体隐性或X连锁隐性。

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本文引用的文献

1
Investigation of families with two or more mentally defective siblings; clinical observations.对有两个或更多智力缺陷同胞的家庭进行调查；临床观察。
AMA J Dis Child. 1959 Apr;97(4):445-63. doi: 10.1001/archpedi.1959.02070010447010.
2
Basic morphological data of external genitals in 177 healthy Central European men.
Am J Phys Anthropol. 1971 May;34(3):325-8. doi: 10.1002/ajpa.1330340303.
3
Plasma profile of pituitary gonadotropins and ovarian steroids in the normal menstrual cycle.正常月经周期中垂体促性腺激素和卵巢甾体激素的血浆水平
Rev Invest Clin. 1973 Oct-Dec;25(4):305-13.
4
Constitutional delay of growth and development: effects of treatment with androgens.体质性生长发育延迟：雄激素治疗的效果
J Pediatr. 1973 Jan;82(1):38-44. doi: 10.1016/s0022-3476(73)80007-1.
5
[Sex linked mental deficiency, unusual facies, macroorchidism and fragile site on chromosome X (author's transl)].
Ann Genet. 1979;22(4):205-9.
6
Growth hormone response to oral TRH as a diagnostic aid in acromegaly.生长激素对口服促甲状腺激素释放激素的反应作为肢端肥大症的一种诊断辅助手段。
Rev Invest Clin. 1978 Apr-Jun;30(2):127-30.