另一例9P综合征病例。
Another case of 9P-syndrome.
作者信息
Mulcahy M T
出版信息
Ann Genet. 1978 Mar;21(1):47-9.
PMID:308342
Abstract
This paper discusses the value of an International Repository of Chromosomal Abnormalities and Variants as a means of communication and case finding. A further case of 9p- is described. The clinical and cytogenetic findings confirm the existence of a clinical entity which in many respects is the opposite of the 9p trisomy syndrome.
摘要
本文讨论了国际染色体异常与变异库作为一种交流和病例发现手段的价值。描述了另一例9号染色体短臂缺失（9p-）的病例。临床和细胞遗传学发现证实了一种临床实体的存在，该实体在许多方面与9号染色体三体综合征相反。
相似文献
1
Another case of 9P-syndrome.另一例9P综合征病例。
Ann Genet. 1978 Mar;21(1):47-9.
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A case of de novo trisomy 12p syndrome.一例新发12号染色体短臂三体综合征病例。
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[9p trisomy syndrome. Two new cases (author's transl)].9号染色体三体综合征。两例新病例（作者译）
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The 9p--syndrome.9p-综合征
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[Abnormalities syndrome in trisomy 9p].9号染色体短臂三体综合征中的异常综合征
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The 9p- syndrome.9号染色体短臂缺失综合征
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The phenotypic and cytogenetic spectrum of partial trisomy 9.9号染色体部分三体的表型和细胞遗传学谱。
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引用本文的文献
1
Deletion of the short arm of chromosome 9. A clinically recognisable entity.9号染色体短臂缺失。一种临床可识别的病症。
Eur J Pediatr. 1980 Sep;134(3):201-4. doi: 10.1007/BF00441473.
2
Where is the gene for GALT?半乳糖-1-磷酸尿苷酰转移酶基因位于哪里？
Hum Genet. 1980;54(1):129-30. doi: 10.1007/BF00279064.
3
Eleven new cases of del(9p) and features from 80 cases.11例9p缺失新病例及80例病例的特征。
J Med Genet. 1988 Nov;25(11):741-9. doi: 10.1136/jmg.25.11.741.
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