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Complex Chromosomal Rearrangement in a Mentally Retarded Boy without Gross Dysmorphic Stigmata
Author(s) -
FRYNS J. P.,
KLECZKOWSKA A.,
LEBAS E.,
GOFFAUX P.,
BERGHE H.
Publication year - 1984
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1984.tb09914.x
Subject(s) - mentally retarded , stigmata , chromosomal translocation , chromosomal rearrangement , medicine , breakpoint , autosome , genetics , karyotype , chromosome , biology , developmental psychology , psychology , gene , history , archaeology
. A boy with severe mental retardation and complex, apparently balanced chromosomal rearrangement (CCR) of autosomes 1, 3 and 5 is described. This complex chromosomal rearrangement involved three translocations and one insertion; five breakpoints were found, at lp31, 3p22, 3p26, 5p14 and 5q23.