Norimasa Mitsui, Kenji Shimizu, Hiroshi Nishimoto, Hiroshi Mochizuki, Masao Iida, Hirofumi Ohashi
Department of Clinical Laboratory, Divisions of Medical Genetics Neurosurgery Metabolism and Endocrinology, Saitama Children's Medical Center, Saitama, Japan.
Congenital anomalies 2013 MarWe describe a patient with typical manifestations of 9p monosomy syndrome, including trigonocephaly and sex reversal. Array comparative genomic hybridization (CGH) revealed a 9p terminal deletion of approximately 9 Mb with the breakpoint at 9p23. We compared the deleted segments of 9p associated with reported cases of 9p monosomy syndrome with trigonocephaly. We did not identify a region that was shared by all patients; however, when only pure terminal or interstitial deletions that did not involve material from any other chromosome were compared, we identified a segment from D9S912 to RP11-439I6 of approximately 1 Mb that was deleted in every patient. We propose that this 1-Mb segment might be the critical region for 9p monosomy syndrome with trigonocephaly. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.
Norimasa Mitsui, Kenji Shimizu, Hiroshi Nishimoto, Hiroshi Mochizuki, Masao Iida, Hirofumi Ohashi. Patient with terminal 9 Mb deletion of chromosome 9p: refining the critical region for 9p monosomy syndrome with trigonocephaly. Congenital anomalies. 2013 Mar;53(1):49-53
PMID: 23480358
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