"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

A population study of chromosome 22q11 deletions in infancy

“…The authors point out that their figure is likely to be an underestimate of the true prevalence of the deletion because it only includes cases presenting with symptoms in infancy; this applies equally to our data. The phenotype associated with deletions within chromosome band 22q11 is very variable,12 as demonstrated by the fact that two of the mothers of the infants in this case series had previously undiagnosed deletions. One of these mothers had no overt clinical problems and the other had had a VSD repaired in childhood.…”

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

“…While the clinical features are compatible with defects of the neural crest derivatives from the 3rd and 4th branchial pouches and 1st± 5th branchial arches [8], the molecular basis is not fully elucidated [2]. As FISH prevails on clinical practice, it has become evident that phenotypes of del22q11.2 are quite variable among individuals [10,14]. While one patient manifests all the features typical for DGS, another, particularly mildly aected patient may not manifest any of the syndromic patterns.…”

“…Originally, this condition was referred to as CATCH 22 syndrome; the acronym (Cardiac defect, Abnormal face, Thymic hypoplasia, Cleft palate, and Hypocalcaemia) [20] in 1993 as a concept that comprises DiGeorge syndrome DGS [1], velo-cardio-facial syndrome VCFS [18], and conotruncal anomaly face syndrome CAFS [17]. Since recent progress in molecular cytogenetics has made it possible to detect the submicroscopic 22q11.2 deletion, the phenotypes of del22q11.2 have been proven to be quite variable among individuals [10,14]. For example, while one patient manifests all the typical features for DGS, another presents with hypoparathyroidism (HP) alone [3,16].…”

Deletion of 22q11 in two brothers with different phenotype

“…The least severely affected patients had only minor facial anomalies and some developmental delay [Lipson et al, 1994;Lindsay et al, 1995]. In the pres- ent report, the older brother was not diagnosed clinically as having DGS until the confirmation of the diagnosis by FISH studies in his younger brother, which warranted similar studies in him.…”