title: Two new cases of pure 1q terminal deletion presenting with brain malformations.
abstract: We describe two new cases of pure 1q terminal deletions. BAC FISH analysis precisely defined the size of deletions. The first is a girl with 10.3-Mb deletion showed typical features of 1q43 deletion as well as a simplified gyral pattern, which was rarely found in 1q43 deletion. The other boy also presented with most of 1q43 deletion features but several atypical symptoms were noted including hydrocephalus, adducted thumbs, and flexion restriction of proximal interphalangeal joints in left hand. A concomitant novel missense mutation in L1CAM was identified in addition to 11.5-Mb deletion. Reviewing all the cases of pure 1q terminal deletion in the literature suggests that it is a clinically recognizable syndrome.
authors.affiliation: Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan. hy-772v@enjoy.ne.jp
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Tomoko
authors.initials: T
authors.lastname: Ida
authors.forename: Yusei
authors.initials: Y
authors.lastname: Nakata
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kamada
authors.forename: Yonehiro
authors.initials: Y
authors.lastname: Kanemura
authors.forename: Mami
authors.initials: M
authors.lastname: Yamasaki
authors.forename: Hiroko
authors.initials: H
authors.lastname: Fujita
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000503:physiopathology; D022202:Chromosomes, Artificial, Bacterial; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics
chemical_list: D039842:Neural Cell Adhesion Molecule L1