'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1). Issue 1 (February 1985)

• Record Type: Journal Article
• Authors: Plessis, G; Couturier, J; Turleau, C; Despoisses, S; Delavenne, J
• Is Part Of: Journal of medical genetics. Volume 22:Issue 1(1985)
• Page Start: 70
• Page End: 73
• Publication Date: 1985-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.22.1.70
• Languages: English
• ISSNs: 1468-6244

Abstract

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.