[Trisomy 13qter by tandem duplication 46, XX, dir dup 13 (q21 qter), 9qh+].
A tandem translocation of chromosome 13-46,XXdup13(q21 leads to qter)--occurred de novo in a patient with the following features: normal birthweight; early feeding difficulties; mild psychomotor retardation; low set hairline on the forehead; thick eyebrows; long, upturned eyelashes; pointed nose; micrognathia; large, flat, posteriorly rotated ears; multiple hemangiomata; normal hematological status. The hypothesis of an unequal crossing-over is discussed, as well as the possibility of constructing a phenotypic map of chromosome 13.
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D003434:Crossing Over, Genetic; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie 13qter par duplication en tandem 46,xx,dir dup 13(q21 leads to qter),9qh+.