Lubala Toni Kasole, Mukuku Olivier, Shongo Mick Pongombo, Mutombo Augustin Mulangu, Lubala Nina, Luboya Oscar Numbi, Lukusa-Tshilobo Prosper
Department of Paediatrics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, Democratic Republic of Congo ; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, Democratic Republic of Congo.
Department of Paediatrics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, Democratic Republic of Congo.
Int Med Case Rep J. 2015 Dec 11;8:333-6. doi: 10.2147/IMCRJ.S86098. eCollection 2015.
The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma.
We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination.
This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen's node.
本报告的目的是描述首例表现出13三体临床特征并伴有骶尾部畸胎瘤的患者。
我们报告了一名刚果女婴的病例，该女婴出生时患有双侧唇腭裂、眼距过窄、小头畸形以及面部毛细血管瘤。她还出现了一个巨大的骶尾部肿物（15.0厘米×12.0厘米×5.0厘米），质地呈囊性，透光试验呈阳性。
该病例表明13号染色体上某些基因的过度表达可能导致亨森结残留细胞形成肿瘤。
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