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 werede 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.
This is a preview of subscription content, log in via an institution to check access.
References
Evans HJ. Chromosome anomalies among live births.J Med Genet 1977; 4: 309.
Moser HW, Wolf PA. The nosology of mental retardation including the report of a survey of 1378 mentally retarded individuals at the Walter Fernault state school. In:Nervous System, Birth Defects Original Article series, Vol. 7, Williams and Wilkins, Baltimore, 1971; 117–134.
Cohen O, Mermet MA, Cans C, Gilardi JL, Simonet A, Jalbert P. Human familial autosomal reciprocal translocations.Ann Genet 1995; 38 (4): 177–186.
Warburton D. De novo balanced chromosome rearragements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints.Am J Hum Genet 1991; 49:995–1013.
Emery AEH, Rimoin DL.Principles and Practise of Mental Retardation. 2nd ed Vol. 1, Churchill Livingstone. Edinburgh, 1990; 503–504.
Nishikawa M, Ichiyama T, Hayashi T, Furukawa S. Mobius like syndrome associated with a 1; 2 chromosome translocation.Clin Genet 1997; 51:122–123.
Voullaire Le, Webb GC. Complex chromosome rearragements involving chromosomes 1;3 and 2;3 in two abnormal children.Clin Genet 1988; 34: 313–320.
Johnson VP. Duplication of the distal part of the long arm of chromosome 1.J Med Genet 1991; 39: 258–269
Wilson MG, Fujimoto A, Shinno NW, Towher JW. Giant satellites or translocation?Cytogenet Cell Genet 1973; 12: 209–211.
Imaizuni K, Kajii T, Niikawa N. 13S+ giant satellites or de novo rearrangement?Hum Genet 1981; 59: 266–268.
Mohammed FM, Krishnamurthy DS, Farag TI, Al-Awadi SA, Alothman SA, Hammad L. Familial pericentric inversion of chromosome 13, 46, XX, inv (13) (p13; q11): a new variant.Ann Genet 1993; 36 (3) : 181–185.
Author information
Authors and Affiliations
Additional information
An erratum to this article is available at http://dx.doi.org/10.1007/BF02726183.
Rights and permissions
About this article
Cite this article
Reddy, K.S., Rajangam, S. & Thomas, I.M. Structural chromosomal anomaly in mental retardation. Indian J Pediatr 66, 937–940 (1999). https://doi.org/10.1007/BF02723872
Issue Date:
DOI: https://doi.org/10.1007/BF02723872