Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter→q22 and deficiency of 22pter→q11.2
- 1 September 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (1) , 92-96
- https://doi.org/10.1002/ajmg.1320370121
Abstract
The proposita presented at birth with multiple congenital anomalies including craniofacial anomalies, bilateral cleft lip and palate, abnormalities of the urogenital system, talipes equinovarus, and the DiGeorge sequence. Cytogenetic investigation showed a 46,XX,‐ 22,+der(9)t(9;22)(q22;q11.2) karyotype. The mother, maternal uncle, and maternal grandmother of the infant are carriers of a reciprocal balanced translocation involving chromosomes 9 and 22 at regions q22 and q11.2, respectively. The unbalanced karyotype seen in the proposita arose due to an adjacent‐2 disjunction of the quadrivalent in the mother. Prenatal diagnosis of the second pregnancy of this woman showed a similar karyotype. Review of the literature shows that adjacent‐2 disjunction may occur preferentially when certain chromosomes are involved in translocations.Keywords
This publication has 20 references indexed in Scilit:
- T cell immunodeficiency in a patient with 10p deletion syndromeThe Journal of Pediatrics, 1989
- Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomalyAmerican Journal of Medical Genetics, 1988
- 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
- Di George syndrome and 22q11 rearrangementsHuman Genetics, 1986
- Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndromeThe Journal of Pediatrics, 1986
- Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centresPrenatal Diagnosis, 1986
- 5′ Nucleotidase Activity in Mitogen-Stimulated Adult and Cord Blood Lymphocyte CulturesPediatric Research, 1983
- Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literatureHuman Genetics, 1981
- A deletion in chromosome 22 can cause digeorge syndromeHuman Genetics, 1981
- Trisomy 9q?. A variant of the 9p trisomy syndromeHuman Genetics, 1975