Van den Enden A, Verschraegen-Spae M R, Van Roy N, Decaluwe W, De Praeter C, Speleman F
Department of Medical Genetics, University Hospital, Gent, Belgium.
Am J Med Genet. 1996 Jun 14;63(3):482-5. doi: 10.1002/(SICI)1096-8628(19960614)63:3<482::AID-AJMG13>3.0.CO;2-I.
We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25-->qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 previously reported patients who were trisomic for the same part of chromosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q.
我们描述了一名患有额缝早闭、面部异常、房间隔缺损、肾积水和下肢屈曲挛缩的早产男婴，以及15q25→qter的嵌合四体。额外的染色体物质以无着丝粒标记的形式存在。在该患儿中观察到的许多临床表现也在之前报道的3例15号染色体相同部分三体的患者以及2例15q较大片段四体的患者中发现。
