Monosomy 5p

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Arachnodactyly

Abnormally long and slender fingers (\"spider fingers\").


合計: 1

                       


（表示件数）
PMID (PMCID)
2311266
 MALE Child
5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly.
Zhang SZ, Tang YC, Dai FP, Niebuhr E.
Clin Genet. 1990;37(2):153-7.
5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly.