Structural chromosomal anomaly in mental retardation.

ABSTRACT

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.