[Trisomy of the short arm of 9 with isochromosome 9p and partial monosomy Yq].
A patient with trisomy 9p in association with monosomy of the heterochromatic distal portion of the Y chromosome is reported. The rearrangement is probably due to malsegregation of a translocation 9p, Y and formation of an iso (9p). The phenotype of the patient is characteristic of trisomy 9p. There is a significant increase of GALT activity.
D000015:Abnormalities, Multiple / Q000235:genetics; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D003878:Dermatoglyphics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
Trisomie du bras court du 9 avec isochromosome 9p et monosomie partielle Yq.