Two new cases of pure 1q terminal deletion presenting with brain malformations.
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.
Hiraki
Yoko
Y
Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan. hy-772v@enjoy.ne.jp
Okamoto
Nobuhiko
N
Ida
Tomoko
T
Nakata
Yusei
Y
Kamada
Masahiro
M
Kanemura
Yonehiro
Y
Yamasaki
Mami
M
Fujita
Hiroko
H
Nishimura
Gen
G
Kato
Mitsuhiro
M
Harada
Naoki
N
Matsumoto
Naomichi
N
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
D039842:Neural Cell Adhesion Molecule L1