Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.
An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late replicating in the proposita, the autosomal segment was not inactivated, leading to functional trisomy for distal 14q. Phenotypic comparison to cases with similar duplications does not allow the clinical description of a partial trisomy syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D012730:Sex Chromosomes; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome