Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.
In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of << distal 6q trisomy syndrome >> showed a direct duplication of 6q23 region. Comparing the phenotype of this child with the phenotype of other << de novo >> partial 6q trisomy, we conclude that band 6q23 has an important role in defining 6q trisomy.
Causio
F
F
Department of Obstetrics and Gynecology, Bari University, Italy.
Fischetto
R
R
Carnevale
F
F
Pansini
A
A
Rocchi
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D018244:Chromosomes, Artificial, Yeast; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy