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.

Growth delay

A deficiency or slowing down of growth pre- and postnatally.


合計: 1

                       


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PMID (PMCID)
10482876
 MIXED_SAMPLE Infant
Variability in a family with an insertion involving 5p.
Marinescu RC, Mamunes P, Kline AD, Schmidt J, Rojas K, Overhauser J.
Am J Med Genet. 1999;86(3):258-63.
Cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation.