Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids.
Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1-->pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.
Zelante
L
L
Servizio di Genetica Medica, IRCCS Ospedale CSS, S. Giovanni Rotondo (Fg), Italy.
Calvano
S
S
Dallapiccola
B
B
Mingarelli
R
R
Antonacci
R
R
Chiovato
L
L
Rocchi
M
M
D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005260:Female; D006801:Humans; D006822:Hybrid Cells; D014314:Trisomy / Q000235:genetics