一例伴有5号染色体长臂3区2带脆性位点（fra(5)(q32)）的脊椎肋骨发育不良病例。
A case of spondylocostal dysostosis with a fra (5) (q32).
作者信息
Satar M, Temoçin A K, Atici A, Demirhan O
机构信息
Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
出版信息
Turk J Pediatr. 1997 Oct-Dec;39(4):547-9.
PMID:9433158
Abstract
Spondylocostal dysostosis is a rare hereditary syndrome with various costal and vertebral deformities. No chromosomal abnormalities in connection with this syndrome were previously reported in literature. We report a case with spondylocostal dysostosis and chromosomal abnormality [fra (5) (q32)].
摘要
脊椎肋骨发育不全是一种罕见的遗传性综合征，伴有各种肋骨和脊柱畸形。此前文献中未报道过与该综合征相关的染色体异常。我们报告一例患有脊椎肋骨发育不全和染色体异常[5号染色体长臂3区2带脆性位点（fra(5)(q32)）]的病例。
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