[Ring chromosome 3 in a mentally retarded adult dwarf].
A 46-year-old man with mental retardation, growth failure and some dysmorphic features is found to have a 46,XX,r(3)(p26q29) karyotype in 93% of his peripheral lymphocytes. This observation is compared with previously cases of ring 3. The existence of a "ring syndrome" is considered.
Teyssier
M
M
Laboratoire Central d'Hématologie et de Cytogénétique, Hôpital Edouard Herriot, Lyon, France.
Piperno
D
D
Charrin
C
C
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure*; D003951:Diagnostic Errors; D004392:Dwarfism / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012303:Ring Chromosomes
Chromosome 3 en anneau chez un adulte nain et retardé mental.