title: Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.
abstract: A 36-week-old fetus was referred to the medical center because of his cystic mass and fluid in left thoracic cavity, and was delivered by cesarean section to manage neonatal problems at 37 weeks of gestation. Emergent surgical repair of the left diaphragmatic hernia was performed, but severe hypoxia persisted, and he expired on the following day. Chromosome analysis of cultured amniotic fluid cells indicated 46,XY,del(8)(p23.1p23.1). This is the fourth case of 8p23.1 deletion associated with diaphragmatic hernia. Microarray comparative genomic hybridization analysis using DNA of cultured amniotic fluid cells showed that six clones were deleted, which were mapped to the region between two low copy repeats (LCRs) at 8p23.1 previously described. Microsatellite analysis revealed that the deletion was of paternal origin, and his parents did not carry 8p23.1 polymorphic inversion. These data strongly suggested that the 8p23.1 interstitial deletion should have arisen through a different mechanism from that of inv dup del(8p) whose structural abnormality is always of maternal origin and accompanies heterozygous 8p23.1 polymorphic inversion in mother.
authors.affiliation: Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Takazumi
authors.initials: T
authors.lastname: Yoshimura
authors.forename: Nadiya
authors.initials: N
authors.lastname: Sosonkina
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Shinji
authors.initials: S
authors.lastname: Kondoh
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Visser
authors.initials: V
authors.lastname: Remco
authors.forename: Takeshi
authors.initials: T
authors.lastname: Takashima
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
authors.forename: Koichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D017809:Fatal Outcome; D015894:Genome, Human; D006239:Haplotypes; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009693:Nucleic Acid Hybridization / Q000379:methods; D011110:Polymorphism, Genetic