[2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia].
Two unrelated individuals are reported with the same clinical picture and trisomic for the same segment of chromosome 11 (q23 leads to qter). That both were seen because of micropenis raises the possibility that genes interfering with the reproductive function are located on chromosome 11 and that the q23 band might be a preferential breakage point of chromosome 11. Certain earlier reports support such a possibility.
D000015:Abnormalities, Multiple; D001284:Atrophy; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D004423:Ear / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D008844:Micrognathism; D009667:Nose Deformities, Acquired; D010413:Penis / Q000002:abnormalities; D014314:Trisomy
Deux observations de trisomie liq(q23.1 leads to qter) avec la mème anomalie des organes genitaux externes