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Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
Author(s) -
Shimokawa Osamu,
Miyake Noriko,
Yoshimura Takazumi,
Sosonkidiya,
Harada Naoki,
Mizuguchi Takeshi,
Kondoh Shinji,
Kishino Tatsuya,
Ohta Tohru,
Remco Visser,
Takashima Takeshi,
Kinoshita Akira,
Yoshiura Koichiro,
Niikawa Norio,
Matsumoto Naomichi
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30778
Subject(s) - congenital diaphragmatic hernia , diaphragmatic breathing , medicine , diaphragmatic hernia , hernia , characterization (materials science) , general surgery , pathology , materials science , nanotechnology , biology , fetus , pregnancy , genetics , alternative medicine
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. © 2005 Wiley‐Liss, Inc.