简要临床报告：一名患有桡骨发育不全、唇腭裂、小头畸形及异常染色体结果的儿童。
Brief clinical report: a child with radius aplasia, cleft of lip and palate, microcephaly, and unusual chromosome findings.
作者信息
Butler M G, Russell L J, Palmer C G, Bull M, Hodes M E
出版信息
Am J Med Genet. 1982 Dec;13(4):369-72. doi: 10.1002/ajmg.1320130404.
Abstract
We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin. In view of the reported cases of limb deficiency with chromosome abnormalities and the unlikelihood that the patient has a recognized genetic syndrome, the cause of the patient’s syndrome may well be the extra chromosomal material.
摘要
我们报告了一名患有小头畸形、桡骨不对称发育不全、唇腭裂畸形综合征的儿童，其为一条来源不明的染色体标记和/或环状染色体的嵌合体。鉴于已报道的伴有染色体异常的肢体缺陷病例，且该患者不太可能患有已确认的遗传综合征，患者综合征的病因很可能是额外的染色体物质。
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