Towards earlier diagnosis of 22q11 deletions

E S Tobias; N Morrison; M L Whiteford; J L Tolmie

doi:10.1136/adc.81.6.513

Towards earlier diagnosis of 22q11 deletions

Arch Dis Child. 1999 Dec;81(6):513-4. doi: 10.1136/adc.81.6.513.

Authors

E S Tobias¹, N Morrison, M L Whiteford, J L Tolmie

Affiliation

¹ Yorkhill NHS Trust, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, UK.

Abstract

Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.

MeSH terms

Abnormalities, Multiple / diagnosis*
Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Craniofacial Abnormalities / diagnosis
DiGeorge Syndrome / genetics
Heart Defects, Congenital / diagnosis
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Tetralogy of Fallot / genetics
Time Factors