Art

J-GLOBAL ID：200902109281583879   Reference number：02A0725530

Co-occurrence of Down syndrome and Treacher-Collins syndrome.

Down症候群とTreacher-Collins症候群の併発

Author (7)： SONODA T (Miyazaki Medical Coll., Miyazaki, JPN) ,  SAWADA K (Miyazaki Medical Coll., Miyazaki, JPN) ,  KOUNO K (Miyazaki Medical Coll., Miyazaki, JPN) ,  TAKAGI J (Miyazaki Medical Coll., Miyazaki, JPN) ,  IKEDA T (Miyazaki Medical Coll., Miyazaki, JPN) ,  SAMESHIMA H (Miyazaki Medical Coll., Miyazaki, JPN) ,  IKENOUE T (Miyazaki Medical Coll., Miyazaki, JPN)
Material： Pediatrics International  (Pediatr Int)
Volume： 44  Issue： 4  Page： 440-442  Publication year： Aug. 2002 
JST Material Number： W1358A  ISSN： 1328-8067  Document type： Article
Article type： 短報  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： *Down Syndrome ,...
Semi thesaurus term： Treavher-Collins症候群

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JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (12)：

• KUNZE, J. Down syndrome (trisomy 21 syndrome, Mongolism, Mongoloidism). Clinical Syndromes. 1997, 100-101
• KUROKI, Y. Treacher Collins Syndrome (Mandibulofacial Dysostosis ; Franceschetti-Klein Syndrome). New Atlas of Congenital Malformation Syndrome. 1998, 28-29
• BALESTRAZZI, P. Frances-chetti syndrome in a child with a de novo balanced translocation (5 ; 13) (q11 ; p11) and significant decrease of hexosaminidase B. Hum. Genet. 1983, 64, 305-308
• DIXON, MJ. Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11 : exclusion of the locus from these candidate regions. Am. J. Hum. Genet. 1991, 48, 274-280
• JABS, EW. Chromosome deletion 4p15.32-p14 in a Treacher Collins syndrome patient : exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics. 1991, 11, 188-192

Terms in the title (3)： Down症候群 ,  Treacher-Collins症候群 ,  併発