Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence.
We report a patient with trisomy 18 in all peripheral lymphocytes, mosaicism in cultured fibroblasts, mild nonspecific dysmorphic features, and normal intelligence. Trisomy 18 mosaicism with complete peripheral lymphocytic trisomy has not been previously described. The karyotype of lymphocytes is not diagnostic in the absence of congruent morphologic features.
Graham
D A
DA
Department of Paediatrics, Christchurch School of Medicine, Christchurch Hospital, New Zealand.
Jewitt
M M
MM
Fitzgerald
P H
PH
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002478:Cells, Cultured; D002869:Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007360:Intelligence; D008214:Lymphocytes / Q000648:ultrastructure*; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy