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DiGeorge syndrome: part of CATCH 22.

Journal of Medical Genetics · 1993 · Vol. 30(10) · pp. 852–856

David I. Wilson✉(Newcastle University)John Burn(Newcastle University)Peter Scambler(Newcastle University)Judith Goodship(Newcastle University)

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Abstract

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

Tracheal and airway disorders Congenital Ear and Nasal Anomalies Cleft Lip and Palate ResearchDiGeorge syndromeHypoplasiaHypocalcaemiaHypoparathyroidismMedicineChromosomeBiologyAnatomyInternal medicineGenetics

MeSH terms

Abnormalities, MultipleChildChild, PreschoolChromosomes, Human, Pair 22Cleft PalateDiGeorge SyndromeEar, ExternalFaceFemaleHeart Defects, CongenitalHumansHypocalcemiaInfantMaleTerminology as Topic

Funding

British Heart Foundation
Medical Research Council

Citations

511

FWCI

26.01

field-weighted impact

References

Percentile

100%

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Citations per year

Cited by

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DiGeorge syndrome: part of CATCH 22.

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