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.

Psychomotor retardation



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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.
7180435
 FEMALE
Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation.
Gencik A, Gencikova A, Palova A.
Acta Paediatr Acad Sci Hung. 1982;23(3):291-8.
The clinical picture of both children included the main features of the cri du chat syndrome: a low birthweight, catlike cry, severe psychomotor retardation, hypotonicity, antimongoloid slant of the eyelids, microcephaly together with other symptoms determined by trisomy 4q.
308345
 FEMALE Infant
A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child.
Bass HN, Sparkes RS, Crandall BF, Galos KJ, Howard J.
Ann Genet. 1978;21(1):56-9.
A two-year-old girl has the following features of the cri du chat syndrome: microcephaly, hypertelorism, downward slanting of the palpebral fissures, psychomotor retardation and a cat-like cry.