cri du chat syndrome การใช้

• Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome.
• Luchsinger published more than 120 research articles, ranging in topic from Cri Du Chat Syndrome to laryngeal surgery.
• Cri du chat syndrome ( CdCS ) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5.
• The deletion of the telomerase reverse transcriptase ( hTERT ) gene localized in 5p15.33 may contribute to the phenotypic changes in cri du chat syndrome as well.
• Congenital disorders such as Down syndrome, fetal alcohol syndrome, Cri du Chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers-Danlos syndrome, Waardenburg syndrome often present with prominent epicanthal fold and if these folds are nasal ( most commonly are ) they will cause telecanthus.