Towards earlier diagnosis of 22q11 deletions

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.

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Bibliographische Detailangaben
Veröffentlicht in:	Archives of disease in childhood 1999-12, Vol.81 (6), p.513-514
Hauptverfasser:	Tobias, E S, Morrison, N, Whiteford, M L, Tolmie, J L
Format:	Artikel
Sprache:	eng
Schlagworte:	22q11 microdeletions Abnormalities, Multiple - diagnosis Adolescent Adult Biological and medical sciences Cardiovascular disease CATCH 22 Child Child, Preschool Chromosome Deletion Chromosomes Chromosomes, Human, Pair 22 Clinical Diagnosis Complex syndromes Congenital diseases Congenital Impairments Craniofacial Abnormalities - diagnosis Defects Developmental Delays DiGeorge syndrome DiGeorge Syndrome - genetics Ear diseases Family (Sociological Unit) Family medical history Fetal Alcohol Syndrome Guidelines Heart Heart Defects, Congenital - diagnosis Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Investigations Learning disabilities Learning Problems Male Medical genetics Medical sciences Mental Disorders Original Parents Patients tetralogy of Fallot Tetralogy of Fallot - genetics Time Factors velocardiofacial
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Beschreibung
Zusammenfassung:	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.
ISSN:	0003-9888 1468-2044
DOI:	10.1136/adc.81.6.513