Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.
Percesepe
Antonio
A
Lugli
Licia
L
Pierluigi
Mauro
M
Cavani
Simona
S
Malacarne
Michela
M
Roversi
Maria Federica
MF
Ferrari
Fabrizio
F
Forabosco
Antonino
A
D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy