Reddy K S, Rajangam S, Thomas I M
Department of Anatomy, St. John's Medical College, Bangalore.
Indian J Pediatr. 1999 Nov-Dec;66(6):937-40. doi: 10.1007/BF02723872.
This article reports the structural chromosomal anomaly in three patients with mental retardation: (i) Proband was a five year old girl with reciprocal retardation (1; 2) (p32; q11) (ii) Proband, female of 14 years. Her karyotype showed translocation (1; 3) (q42; q13). The translocations were de novo in origin (iii) Proband showed variant 13 as the giant satellite over its short arm, and this was paternal in origin. Proband, eighteen months old male child had microcephaly and seizures. These two features may be because of autosomal recessive condition. This report emphasises the need for kayotyping to provide a clear cut diagnosis and appropriate counselling.
（i）先证者是一名5岁女童，存在相互易位（1；2）（p32；q11）；（ii）先证者为一名14岁女性。其核型显示易位（1；3）（q42；q13）。这些易位均为新发突变；（iii）先证者13号染色体短臂呈现巨大卫星体变异，此变异源自父亲。先证者是一名18个月大的男童，患有小头畸形和癫痫。这两个特征可能是由于常染色体隐性疾病所致。本报告强调了进行核型分析以提供明确诊断和适当咨询的必要性。
