9号染色体短臂单体和三体中的典型和反典型体征。以一例46,XY,del(9)(pter→p12)为例。
Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:).
作者信息
Hernandez A, Rivera H, Jiménez-Sainz M, Fragoso R, Nazara Z, Cantu J M
出版信息
Ann Genet. 1979;22(3):155-7.
PMID:316671
Abstract
A 15-month-old male with a partial monosomy 9p is reported. The comparative analysis with other cases of 9p monosomy demonstrates a typical phenotype which when compared to that of 9p trisomy, permits the delineation of fifteen "type and contretype" signs.
摘要
报道了一名患有9p部分单体型的15个月大男性。与其他9p单体型病例的比较分析显示出一种典型的表型，与9p三体型的表型相比，可确定15个“典型和反典型”体征。
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Abnormal chromosome 9 in a neonate program. Report of three cases.新生儿程序中的9号染色体异常。三例报告。
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Cri du chat-syndrome in combination with partial trisomy 9 p.猫叫综合征合并9号染色体短臂部分三体性
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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
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.
3
Maternal translocation (9;18) with two abnormal offspring each with different chromosome derivatives.母亲发生（9；18）易位，育有两个异常后代，每个后代具有不同的染色体衍生物。
J Med Genet. 1989 Oct;26(10):655-8. doi: 10.1136/jmg.26.10.655.
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