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Two new cases of pure 1q terminal deletion presenting with brain malformations
Author(s) -
Hiraki Yoko,
Okamoto Nobuhiko,
Ida Tomoko,
Nakata Yusei,
Kamada Masahiro,
Kanemura Yonehiro,
Yamasaki Mami,
Fujita Hiroko,
Nishimura Gen,
Kato Mitsuhiro,
Harada Naoki,
Matsumoto Naomichi
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32275
Subject(s) - missense mutation , terminal (telecommunication) , genetics , mutation , biology , medicine , gene , computer science , telecommunications
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. © 2008 Wiley‐Liss, Inc.