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A CATCH-22 Situation. 

Catch 22 Syndrome   

Dr Sampurna Roy MD

 

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Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome.

CATCH 22 syndrome is a medical acronym for multiple abnormalities, especially cardiac defect .

[CATCH 22 syndrome: Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.]

C =  Cardiac defects,

The following Cardiovascular anomalies may be present  -

Ventricular septal defect ; pulmonary atresia ; Fallot's tetralogy ; aortic valve stenosis ; atrial septal defect ; tricuspid atresia ; hypoplastic left heart syndrome ; persisting ductus arteriosus ; pulmonary valve stenosis ; complete (third degree) atrioventricular block ; Ebstein's anomaly, tachycardia and enlarged right atrium.

A =  Abnormal facies,

T = Thymic hypoplasia,

C =Cleft palate, and

 

 

H =Hypocalcemia,

 

The basic embryological fault in these disorders is an inadequate development of the facial neural crest tissues, resulting in defective organogenesis of pharyngeal pouch derivatives.

In chromosome 22q11 deletion syndrome, a small deletion of band 11 of the long arm of chromosome 22 is best seen by fluorescence in situ hybridization.

 

 

Further reading:

The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome).

Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.

CATCH 22 Syndrome.

A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman.

Lower airway anomalies in children with CATCH 22 syndrome and congenital heart disease.

CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.

Asymptomatic extreme hypocalcemia in a 29-year old woman with CATCH 22

 

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Dr  Sampurna Roy  MD

Consultant Histopathologist (Kolkata - India)

 

 

 


 

 

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