De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes.
We describe a 19-year-old patient with a de novo mosaic add(3) chromosome (extra material of unknown origin on the 3q). The use of spectral karyotyping and fluorescence in situ hybridization using subtelomeric probes permitted the full characterization of the cytogenetic abnormality. The additional material on 3q was found to originate from 14q31-qter. This is one of the few reported cases with trisomy 14q31-qter and is the first mosaic case.
Reddy
K S
KS
Quest Diagnostics Incorporated, San Juan Capistrano, California 92690, USA. reddyk@questdiagnostics.com
Sulcova
V
V
Young
H
H
Blancato
J K
JK
Haddad
B R
BR
D000328:Adult; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy