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Karyotype-phenotype Correlations in Structural Chromosome Abnomalities

山口医学 Volume 28 Issue 3-4 Page 245-256
published_at 1979-12
Title
ヒト染色体構造異常の核型と表現型との関係に関する研究
Karyotype-phenotype Correlations in Structural Chromosome Abnomalities
Creators Yokoyama Hiroshi
Source Identifiers
A study was performed on the phenotype-karyotype correlations in 5p^-, partial 9 trisomy, partial 13 trisomy syndromes, and structural X chromosome anomalies. 1) 5p^- syndrome : Deletion of the band p 15.2 is pathognomonic of the 5p^- syndrome, especially of cri du chat. 2) Partial trisomy 9 : Trisomies for 9p, 9q2, and distal 9q are all associated with a distinct combination of clinical features. The simian line and the absence or fusion of palmar triradii b and c are found in 9p trisomy, but not in 9q2 or distal 9q trisomy. Congenital heart disease and urogenital abnomalities are characteristic of 9q2 trisomy. Dislication of the hip and knee joints is associated with distal 9q trisomy.
Subjects
医学 ( Other)
Languages jpn
Resource Type journal article
Publishers 山口大学医学会
Date Issued 1979-12
File Version Not Applicable (or Unknown)
Access Rights metadata only access
Relations
[ISSN]0513-1731
[NCID]AN00243156
Schools 医学部