[Distal trisomy 14q caused by a paternal translocation (6;14)].
A female child was found to have a partial duplication of the long arm of chromosome 14 (14q24----qter). This duplication was due to paternal balanced translocation 46,XY,t(6;14) (q27;q24). Patient had craniofacial dysmorphism with microphtalmia, flat nasal bridge, lowest malformed ears, short neck, dolicocolon and mental retardation. A comparison is made between other reported cases in the literature and this observation. Most of the anomalies described in these published reports are not shared by the present patient. This can be explained by the simultaneous presence or not of a partial deletion and the size of the duplicated segment.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D014314:Trisomy
Trisomía 14q distal debida a una translocación paterna (6;14).