DGDP #
051
Gender
F
Year of Birth
N/A
Karyotype

t(8:10)(p23.3;q23.2), dup(2)(p11.2)

Phenotype
Severely retarded; intractable epilepsy, no speech, hypotonia, hypermobile joints except rigid elbows and knees, scoliosis, severe developmental delay, prognathia, thickened gums, sialorrhea, thin upper lip, high nasal bridge, backward rotation of ears, bilateral rigid clubfoot, small hands with hypoplastic nails, dry palmar and plantar surfaces, prominent lower lip
Notes - Mother and sister with t(8;10)(p23.3;q23.2); phenotypically normal
LBL
Yes
DNA
Yes