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16q12 microdeletion syndrome in two J apanese boys
Author(s) -
Morisada Naoya,
Sekine Takashi,
Ishimori Shingo,
Tsuda Masahiko,
Adachi Masao,
Nozu Kandai,
Nakanishi Koichi,
Tanaka Ryojiro,
Iijima Kazumoto
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12426
Subject(s) - medicine , microdeletion syndrome , comparative genomic hybridization , polydactyly , imperforate anus , pediatrics , fluorescence in situ hybridization , genetics , chromosome , gene , surgery , anatomy , biology
Microdeletion of 16q12 is a rare chromosomal abnormality. We present the cases of two J apanese patients with developmental and renal symptoms of differing clinical severity. Both patients had 16q12 interstitial microdeletions that included the entire SALL1 gene. Patient 1 was a 15‐year‐old J apanese boy clinically diagnosed with branchio‐oto‐renal syndrome with mild developmental delay, but with no imperforate anus or polydactyly. Array comparative genome hybridization ( aCGH ) indicated a 5.2 Mb deletion in 16q12, which included SALL1 . Patient 2 was a 13‐year‐old J apanese boy diagnosed with Townes–Brocks syndrome and severe developmental delay, epilepsy, and renal insufficiency requiring renal replacement therapy. Fluorescence in situ hybridization indicated deletion of the entire SALL1 gene. Subsequent aCGH showed a 6 Mb deletion in 16q12q13, which included SALL1 . Precise analysis of the present two cases will give us some clues to elucidate the pathogenic mechanisms of 16q12 microdeletion syndrome.