Kato R, Yamada Y, Niikawa N
Department of Human Genetics, Nagasaki University School of Medicine, Japan.
Am J Med Genet. 1996 Dec 11;66(2):184-6. doi: 10.1002/(SICI)1096-8628(19961211)66:2<184::AID-AJMG11>3.0.CO;2-P.
We report on a sporadic case of heterotaxia with a de novo chromosome structural abnormality. The patient had inversely located heart (dextrocardia), stomach, duodenum, and cecum. In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prominent maxilla and teeth, large carp mouth, short fifth fingers with limited flexion, generalized hypotonicity, and severe psychomotor retardation. High-resolution chromosome banding analysis demonstrated an apparently balanced translocation: 46,XX,t(6;18)(q21;q21.3). It is hypothesized that both heterotaxia and the chromosomal abnormality in the patient are causally related and a putative situs determining gene has been disrupted by the chromosome break, i.e., a position effect or a cryptic deletion at around the breakpoints. The translocation in our patient may be a good source for positional cloning of the gene.
我们报告了一例散发的伴有新发染色体结构异常的内脏异位病例。该患者心脏（右位心）、胃、十二指肠和盲肠位置颠倒。此外，她还患有脑萎缩、眼距过宽伴内眦距增宽、眶下皮肤皱纹、耳垂沟、上颌和牙齿突出、鲤鱼嘴大、第五指短且屈曲受限、全身肌张力减退以及严重的精神运动发育迟缓。高分辨率染色体显带分析显示出一种明显平衡的易位：46,XX,t(6;18)(q21;q21.3)。据推测，患者的内脏异位和染色体异常存在因果关系，一个假定的确定内脏位置的基因已因染色体断裂而被破坏，即在断点周围存在位置效应或隐匿性缺失。我们患者的这种易位可能是该基因位置克隆的良好来源。
