Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
A small supernumerary ring chromosome has been found in a boy with overweight, dysmorphic facies and mental retardation. His mother had an interstitial deletion of the long arm of chromosome 19 and the same ring chromosome. By means of fluorescence in situ hybridization the ring chromosome was shown to be derived from the deleted chromosome, after the occurrence of two breaks: one in the centromere region, the other in the q-arm of chromosome 19.
Quack
B
B
Laboratoire de Cytogénétique, Chambéry, France.
Van Roy
N
N
Verschraegen-Spae
M R
MR
Klein
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D007806:Language Disorders / Q000235:genetics; D008297:Male; D009765:Obesity / Q000235:genetics; D010641:Phenotype; D012303:Ring Chromosomes; D014314:Trisomy