[CATCH22 or 22q11 deletion syndrome. An underdiagnosed and misunderstood disease category with a variable clinical picture].
Patients with CATCH 22 or 22q11 deletion syndrome constitute a fast growing category in Sweden as it is still underdiagnosed. In a series of 54 patients the predominant features were found to be speech and language difficulties, cardiac malformations, susceptibility to infection, learning and behavioural problems, hypoparathyroidism, minor motor deficits, and characteristic facies. The severity of these problems varied individually, but as the patients had numerous symptoms and disabilities the overall degree of handicap was considerable. Thus, regular evaluation of the patient's condition and overall need of care is important.
Oskarsdóttir
S
S
Sahlgrenska Universitetssjukhuset/Ostra. solveig.oskarsdottir@sahlgrenska.se
Fasth
A
A
Belfrage
M
M
Viggedal
G
G
Persson
C
C
Eriksson
B O
BO
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013577:Syndrome
CATCH 22-syndrom/22q11-deletionssyndrom. Underdiagnostiserad och missförstådd sjukdomsgrupp med skiftande klinisk bild.