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.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


合計: 4

                       


（表示件数）
PMID (PMCID)
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.
8641700
 MIXED_SAMPLE Infant
Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.
Goodart SA, Butler MG, Overhauser J.
Hum Genet. 1996;97(6):802-7.
The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome.
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.