Partial proximal trisomy 10q syndrome: a new case.
We report a case of partial proximal trisomy of the long arm of chromosome 10 confirmed by fluorescence in situ hibridization (FISH) performed with whole chromosome 10 specific painting and specific yac clones. The phenotypic findings, compared to those found in other published cases with the same karyotype, support the recognition of a distinctive partial proximal trisomy 10q syndrome (10q11-->q22).
Nucaro
A
A
Istituto di ricerca sulle Talassemie e Anemie Mediterranee del CNR, Selargius, Cagliari, Italy.
Faedda
A
A
Cao
A
A
Boccone
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D018244:Chromosomes, Artificial, Yeast; D002879:Chromosomes, Human, Pair 10; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy