A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
- 1 November 1992
- journal article
- Vol. 51 (5) , 957-63
Abstract
Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.This publication has 23 references indexed in Scilit:
- DiGeorge anomaly associated with 10p deletionAmerican Journal of Medical Genetics, 1991
- Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequenceAmerican Journal of Medical Genetics, 1989
- CYTOGENETIC FINDINGS IN A PROSPECTIVE SERIES OF PATIENTS WITH DIGEORGE ANOMALY1988
- Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).Journal of Medical Genetics, 1987
- Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndromeThe Journal of Pediatrics, 1986
- Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangementClinical Genetics, 1986
- Familial DiGeorge syndrome and associated partial monosomy of chromosome 22Human Genetics, 1984
- The association of the DiGeorge anomalad with partial monosomy of chromosome 22The Journal of Pediatrics, 1982
- A deletion in chromosome 22 can cause digeorge syndromeHuman Genetics, 1981
- Inherited Partial Trisomy 8q (22 → qter)Archives of Pediatrics & Adolescent Medicine, 1978