9号染色体部分三体综合征伴科芬-西里斯综合征样表现。
Partial trisomy 9 with resemblance to Coffin-Siris syndrome.
作者信息
Kushnick T, Adessa G M
出版信息
J Med Genet. 1976 Jun;13(3):237-9. doi: 10.1136/jmg.13.3.237.
Abstract
An infant with partial trisomy of chromosome 9 who phenotypically resembled a case of Coffin-Siris syndrome is presented.
摘要
本文报告了一名9号染色体部分三体的婴儿，其表型类似于科芬-西里斯综合征病例。
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Partial trisomy 9 with resemblance to Coffin-Siris syndrome.9号染色体部分三体综合征伴科芬-西里斯综合征样表现。
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引用本文的文献
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Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.家族性9号染色体短臂三体与脊髓性肌萎缩症：临床、细胞遗传学及胚胎学研究结果
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本文引用的文献
1
Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.推定9号染色体短臂三体性，非遗传性易位所致。
Humangenetik. 1971;12(3):175-81. doi: 10.1007/BF00702772.
2
[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].4例9号染色体短臂三体。一种新的病态实体的个体化研究
Ann Genet. 1970 Dec;13(4):217-32.
3
A case of trisomy 9.一例9三体综合征病例。
J Med Genet. 1973 Jun;10(2):184-7. doi: 10.1136/jmg.10.2.184.
4
Trisomy 9 mosaicism with multiple congenital anomalies.9号染色体三体镶嵌型并伴有多种先天性异常。
J Med Genet. 1973 Jun;10(2):180-4. doi: 10.1136/jmg.10.2.180.
5
Coffin-Siris syndrome. Two new cases.
Am J Dis Child. 1973 Jun;125(6):838-40. doi: 10.1001/archpedi.1973.04160060048010.
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