A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman

Abstract

CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hypocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.

Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference

“…[1][2][3] Prevalence figures for chromosome 22q11.2 deletion syndrome (22q11.2DS) range from 1 in 3000 to 1 in 9000 live births. [4][5][6] More than 90% of the cases result from de novo mutations that occur via chromosomal rearrangement during the formation of reproductive cells or during early fetal development. 7 Cardiovascular malformations are common in 22q11.2DS, occurring in more than 70% of cases.…”