Cat cry

MedGen UID:: 536297
•Concept ID:: C0234861
•: Finding

Synonyms:	Cat's cry; cat-like cry; cri de chat-associated cry; Cri du chat
SNOMED CT:	Cat's cry (42712003); Cri du chat (42712003)

HPO:	HP:0200046

Definition

The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCat cry

Phenotypic abnormality
- Abnormality of the voice
  - Abnormal cry
    - Cat cry

Conditions with this feature

5p partial monosomy syndrome

MedGen UID:: 41345
•Concept ID:: C0010314
•: Disease or Syndrome

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

See: Condition Record

5p partial monosomy syndrome

Professional guidelines

PubMed

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD
J Med Genet 2001 Mar;38(3):151-8. doi: 10.1136/jmg.38.3.151. PMID: 11238681 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Successful staged repair for a rare type of truncus arteriosus with interruption of the aortic arch and abnormal origin of the left coronary artery.

Uchita S, Harada Y, Honda K, Toguchi K, Nishimura Y, Suenaga T, Takeuchi T, Suzuki H, Okamura Y
J Cardiothorac Surg 2013 May 28;8:136. doi: 10.1186/1749-8090-8-136. PMID: 23714656 Free PMC Article

A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up.

Posmyk R, Panasiuk B, Yatsenko SA, Stankiewicz P, Midro AT
Genet Couns 2005;16(1):17-25. PMID: 15844774

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

Bocian E, Suchenek K, Obersztyn E, Nowakowska B, Mazurczak T
J Appl Genet 2005;46(1):109-14. PMID: 15741672

The cat cry syndrome (5p-) in adolescents and adults.

Niebuhr E
J Ment Defic Res 1971 Dec;15 Pt 4(0):277-91. doi: 10.1111/j.1365-2788.1971.tb01167.x. PMID: 5173012

B group short-arm deletion syndrome.

Sedano HO, Look RA, Carter C, Cohen MM Jr
Birth Defects Orig Artic Ser 1971 Jun;7(7):89-97. PMID: 4950926

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Diagnosis

A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.

Gu H, Jiang JH, Li JY, Zhang YN, Dong XS, Huang YY, Son XM, Lu X, Chen Z
PLoS One 2013;8(10):e76985. Epub 2013 Oct 15 doi: 10.1371/journal.pone.0076985. PMID: 24143197 Free PMC Article

Scoliosis in cat cry syndrome.

Takebayashi T, Obata H, Minaki Y, Sekine M, Imoto K, Yokogushi K, Yamashita T
J Orthop Sci 2006 May;11(3):259-63. doi: 10.1007/s00776-006-1019-8. PMID: 16721526

Chromosomal rearrangements detected by FISH and G-banding.

Hou JW, Wang TR
J Formos Med Assoc 1996 Sep;95(9):686-91. PMID: 8918057

Cri du chat (cat cry) syndrome.

Napitupulu L, Raid N, Siregar H
Paediatr Indones 1977 Nov-Dec;17(11-12):402-6. PMID: 607173

B group short-arm deletion syndrome.

Sedano HO, Look RA, Carter C, Cohen MM Jr
Birth Defects Orig Artic Ser 1971 Jun;7(7):89-97. PMID: 4950926

See all (6)