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.

Weak cry



合計: 1

                       


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PMID (PMCID)
29419873
 FEMALE Infant, Newborn
[Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome].
He W, Chen H, Mu H, Li J.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35(1):104-106.
OBJECTIVE To analyze the clinical features and genetic mutations in a neonate with atypical Cri-du-chat syndrome, whom only featured with weak cry but had no dysmorphic facial features and congenital heart disease.