Tandem duplication of proximal 5q.
A 3.5-year-old boy with a de novo tandem duplication 5q11.1----5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11----q13.
Rojas-Martinez
A
A
División de Genética, Instituto Mexicano, Guadalajara, Jalisco, Mexico.
Garcia-Cruz
D
D
Medina
C
C
Moller
M
M
Restrepo
C M
CM
Rivera
H
H
D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D013577:Syndrome; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
D001619:beta-N-Acetylhexosaminidases