Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.
We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 --> 20qter and highlights the relevance of CGH for the detection of such rearrangements.
Blanc
Pierre
P
CHU Clermont-Ferrand, Service de Biochimie Biologie Moléculaire, Clermont-Ferrand, France. pblanc@chu-clermontferrand.fr
Gouas
Laetitia
L
Francannet
Christine
C
Giollant
Michel
M
Vago
Philippe
P
Goumy
Carole
C
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D002675:Child, Preschool; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D019465:Craniofacial Abnormalities; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods; D014314:Trisomy / Q000235:genetics*