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.

High-pitched cry

A type of crying in an abnormally high-pitched voice.


合計: 1

                      


(表示件数)
PMID (PMCID)
24265573
(3835645)
FEMALE Infant
Brain stem hypoplasia associated with Cri-du-Chat syndrome.
Hong JH, Lee HY, Lim MK, Kim MY, Kang YH, Lee KH, Cho SG.
Korean J Radiol. 2013;14(6):960-2.
We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.