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Patient with terminal 9 Mb deletion of chromosome 9p: Refining the critical region for 9p monosomy syndrome with trigonocephaly
Author(s) -
Mitsui Norimasa,
Shimizu Kenji,
Nishimoto Hiroshi,
Mochizuki Hiroshi,
Iida Masao,
Ohashi Hirofumi
Publication year - 2013
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2012.00362.x
Subject(s) - trigonocephaly , monosomy , comparative genomic hybridization , breakpoint , biology , genetics , chromosome , craniosynostosis , medicine , karyotype , gene
We 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.