Two Robertsonian translocations in a boy with mental retardation
- 1 June 1982
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (3) , 229-232
- https://doi.org/10.1136/jmg.19.3.229
Abstract
An 8-yr-old boy with mental retardation was found to be a mosaic, showing 3 different cell lines, 46,XY/46,XY, -21, +t(q21q21)/45,XY, -13, -21 + t(q13q21) in cultured peripheral blood cells.Keywords
This publication has 12 references indexed in Scilit:
- Partial trisomy 13q21?qter de novo due to a recombinant chromosome rec(13)dup qHuman Genetics, 1979
- Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing‐overAnnals of Human Genetics, 1978
- Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21,+t(15q21q) and 46,XX,-21,+t(21q21q)Journal of Medical Genetics, 1974
- Trisomy for the Distal Segment of Chromosome 13American Journal of Diseases of Children, 1974
- Duplication/deficiency product of a pericentric inversion in man: A cause of D1 trisomy syndromeThe Journal of Pediatrics, 1973
- Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.Journal of Medical Genetics, 1972
- Inherited pericentric inversion of a group D (13-15) chromosome.Journal of Medical Genetics, 1972
- Patau's syndrome with D1 duplication-deficiency derived from a maternal D group pericentric inversionAnnals of Human Genetics, 1971
- Dermatoglyphic nomogram for the diagnosis of Down's syndromeThe Journal of Pediatrics, 1970
- FAMILIAL MOSAICISM ATTRIBUTABLE TO A NEW GENEThe Lancet, 1965