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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 9

                       


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PMID (PMCID)
24556499
 MIXED_SAMPLE Child
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.
Elmakky A, Carli D, Lugli L, Torelli P, Guidi B, Falcinelli C, Fini S, Ferrari F, Percesepe A.
Eur J Med Genet. 2014;57(4):145-50.
Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with variable frequency.
24556499
 MIXED_SAMPLE Child
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.
Elmakky A, Carli D, Lugli L, Torelli P, Guidi B, Falcinelli C, Fini S, Ferrari F, Percesepe A.
Eur J Med Genet. 2014;57(4):145-50.
The previously described critical region for the speech delay may be narrowed down and microcephaly, growth retardation and dysmorphic facial features can be included in the phenotypic expression of the atypical cri du chat syndrome due to 5p15.3 deletions.
22193390
 OTHER Child
Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.
Basinko A, Giovannucci Uzielli ML, Scarselli G, Priolo M, Timpani G, De Braekeleer M.
Eur J Med Genet. 2012;55(2):112-6.
The patient presented signs such as microcephaly, hypertelorism, micrognathia and epicanthal folds, partially recalling those of a deletion of the short arm of chromosome 5 and the "cri-du-chat" syndrome.
19495505
 FEMALE Adult
Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers.
Teoh XH, Tan TY, Chow KK, Lee IW.
Singapore Med J. 2009;50(5):e181-4.
Cri-du-chat syndrome is a chromosomal abnormality involving a 5p deletion and is characterised by a cat-like cry, mental retardation, microcephaly and abnormal facial features.
2671452
 MALE Infant
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1).
Sonoda T, Kawaguchi K, Ohba K, Madokoro H, Ohdo S.
Jinrui Idengaku Zasshi. 1989;34(2):129-34.
The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome.
2671452
 MALE Infant
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1).
Sonoda T, Kawaguchi K, Ohba K, Madokoro H, Ohdo S.
Jinrui Idengaku Zasshi. 1989;34(2):129-34.
Growth and developmental retardation, and microcephaly noted in this patient were markedly more serious than those observed in patients either with partial monosomy 5p or with partial trisomy 5q alone.
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.
7422065
 FEMALE Infant
[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)].
Mita R, Moriyama T, Sekiya T, Takebe Y.
No Shinkei Geka. 1980;8(8):761-5.
At the time of admission to our service, she showed typical symptoms of "cri-du-chat" syndrome, namely, characteristic cry, mental retardation (DQ was 48), microcephaly (head circumference was 34.5 cm), rounded face, hypertelorism, oblique palpebral fissures, epicanthus, low-set ears, micrognathia, short neck, simian crease.
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.