Literature DB >> 24524058

A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman.

Seung Kyung Lee1, Min Jeong Lee1, Hyo Jin Lee1, Bu Kyung Kim1, Young Bae Sohn2, Yoon-Sok Chung1.   

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.

Entities:  

Keywords:  DiGeorge Syndrome; Hypocalcemia; Hypoparathyroidism

Year:  2013        PMID: 24524058      PMCID: PMC3780829          DOI: 10.11005/jbm.2013.20.1.57

Source DB:  PubMed          Journal:  J Bone Metab        ISSN: 2287-6375


  6 in total

Review 1.  Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

Authors:  Elena Perez; Kathleen E Sullivan
Journal:  Curr Opin Pediatr       Date:  2002-12       Impact factor: 2.856

2.  The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

Authors:  D M McDonald-McGinn; R Kirschner; E Goldmuntz; K Sullivan; P Eicher; M Gerdes; E Moss; C Solot; P Wang; I Jacobs; S Handler; C Knightly; K Heher; M Wilson; J E Ming; K Grace; D Driscoll; P Pasquariello; P Randall; D Larossa; B S Emanuel; E H Zackai
Journal:  Genet Couns       Date:  1999

3.  Long-term assessment of T-cell populations in DiGeorge syndrome.

Authors:  Javier Chinen; Howard M Rosenblatt; E O'Brian Smith; William T Shearer; Lenora M Noroski
Journal:  J Allergy Clin Immunol       Date:  2003-03       Impact factor: 10.793

Review 4.  Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.

Authors:  Lisa J Kobrynski; Kathleen E Sullivan
Journal:  Lancet       Date:  2007-10-20       Impact factor: 79.321

5.  Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors:  D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

6.  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Authors:  A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

  6 in total

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