Cat cry syndrome

Cat cry syndrome
A disorder caused by the loss of part of the short (p) arm from chromosome 5. Also called the cri du chat (or cri-du-chat) syndrome. The cat cry syndrome is one of the most common human deletion syndromes with an incidence varying between 1 in 20,000 to 1 in 50,000 births. The frequency of the syndrome among profoundly retarded patients (with an IQ less than 20) is approximately 1 in 100. The syndrome was discovered in France in 1963 by a team headed by the late Jerome Lejeune. The peculiar cry of affected infants sounded to Lejeune like the meowing of a Parisian cat. The syndrome involves severe developmental and mental retardation and a characteristic constellation of congenital malformations which include microcephaly (small head), round face, hypertelorism (wide-spread eyes), micrognathia (small chin), epicanthal folds (inner eye folds), low-set ears, hypotonia (poor muscle tone), and motor and mental retardation. Although the majority of patients die in early childhood, some survive into adulthood and exhibit an IQ below 20, a loss of hypertelorism and epicanthic folds and development of a thin narrow face with prominent nasal bridge.

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cat cry syndrome -.krī- n CRI DU CHAT SYNDROME

Medical dictionary. 2011.

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  • cat’s cry syndrome — cat’s cry syndrome. См. синдром Лежена. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • cat's cry syndrome — Pathol. a complex of congenital malformations in human infants caused by a chromosomal aberration and in which the infant emits a mewing cry. Also called cri du chat. * * * …   Universalium

  • cat's cry syndrome — Pathol. a complex of congenital malformations in human infants caused by a chromosomal aberration and in which the infant emits a mewing cry. Also called cri du chat …   Useful english dictionary

  • cat's cry syndrome — cri du chat s …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Syndrome des yeux de chat — Pour les articles homonymes, voir Yeux de chat. Une illustration du colobome de l iris d où vient le nom du syndrome. Le Syndrome des yeux de chat (ou cat eye syndrom ou inversion duplication …   Wikipédia en Français

  • cri du chat syndrome — krē du̇ shä , də n an inherited condition characterized by a mewing cry, mental retardation, physical anomalies, and the absence of part of a chromosome called also cat cry syndrome * * * a hereditary congenital syndrome characterized by hypertel …   Medical dictionary

  • Cat — For other uses, see Cat (disambiguation) and Cats (disambiguation). Domestic cat[1] …   Wikipedia

  • cri du cat syndrome — “cri du cat” syndrome = cat’s cry syndrome (см. ). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • cri-du-chat syndrome — ▪ pathology       rare congenital disorder caused by partial deletion of the short arm of chromosome 5, characterized by mental retardation, mild facial abnormalities, anomalies of dermal ridge patterns (fingerprints, palm prints, and footprints) …   Universalium

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