title: Patient with terminal 9 Mb deletion of chromosome 9p: refining the critical region for 9p monosomy syndrome with trigonocephaly.
abstract: 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.
authors.affiliation: Department of Clinical Laboratory, Divisions of Medical Genetics Neurosurgery Metabolism and Endocrinology, Saitama Children's Medical Center, Saitama, Japan.
authors.forename: Norimasa
authors.initials: N
authors.lastname: Mitsui
authors.forename: Kenji
authors.initials: K
authors.lastname: Shimizu
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nishimoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mochizuki
authors.forename: Masao
authors.initials: M
authors.lastname: Iida
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
mesh_terms: D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009006:Monosomy; D014057:Tomography, X-Ray Computed / Q000379:methods