'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).
- 1 February 1985
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 22 (1) , 70-73
- https://doi.org/10.1136/jmg.22.1.70
Abstract
This report describes a male infant with partial trisomy 2q: 46,Y,der(X),t(X;2) (p22.3;q32.1)mat. The phenotype was compatible with partial trisomy 2q syndrome. Replication studies showed a random X inactivation in the mother. Soluble isocitrate dehydrogenase (IDH-1) dosage was within the expected range for a trisomic patient and favours the assignment of this locus to the region 2q32----qter.Keywords
This publication has 6 references indexed in Scilit:
- Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocationHuman Genetics, 1982
- Report of the committee on the genetic constitution of chromosomes 2, 3, 4, and 5Cytogenetic and Genome Research, 1982
- Late replication studies in a human X/13 translocation: correlation with autosomal gene expressionCytogenetic and Genome Research, 1981
- Mental retardation in association with a balanced X‐autosome translocation and random inactivation of the X chromosomesClinical Genetics, 1980
- X-autosome translocations: a review.1978
- Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriersHuman Genetics, 1977