A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation.
Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan. tokutomi-tomo@umin.ac.jp
Tomoharu
T
Tokutomi
Takahito
T
Wada
Eiji
E
Nakagawa
Shinji
S
Saitoh
Masayuki
M
Sasaki
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics