'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D004303:Dosage Compensation, Genetic; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007521:Isocitrate Dehydrogenase / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome
D007521:Isocitrate Dehydrogenase