IN SITU HIBRIDIZATION Cri du Chat Syndrom e DELECTION (5p15.2)-WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4267

Sample:	Whole blood - Heparin (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	9 days
Information:
The Cri du chat syndrome (French for Cri du Chat) or Lejeune's syndrome, is a rare congenital disorder due to a chromosomal abnormality caused by an autosomal type terminal or interstitial deletion of the short arm of chromosome 5. The process always occurs at conception. The patient usually presents with intrauterine growth retardation and low birth weight, characteristic reminiscent crying cat meow, due to laryngomalacia with hypoplasia of the epiglottis and aryepiglottic folds winding down. The voice feature disappears in older patients,predominates in girls, and at birth the size of the skull atracts attention in contrast with the round face . In all cases, a mental disorder is detected. In 85-90% of cases, the syndrome occurs due to a de novo deletion or translocation. In the remaining 10-15% it is inherited from their parents. The development is very slow and it remains for behind mainly in static and psychomotor development. With increasing age the delay in intellectual abilities is accentuated. The prognosis depends on the associated malformations and psychomotor retardation.
Links:
OMIM Entry - # 123450 - CRI-DU-CHAT SYNDROME
OMIM Entry - - 604275 - CATENIN, DELTA-2; CTNND2

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