De novo 3q/7q translocation and associated interstitial 7q35 deletion.
In the present report we describe a severely mentally retarded and dysmorphic female child with a de novo 3q/7q reciprocal translocation and loss of band 7q35. This finding supports the hypothesis that the occurrence of mental retardation and/or congenital malformations in de novo autosomal reciprocal translocation may be due to the loss of a small amount of chromatin material during this chromosomal rearrangement.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Kleczkowska
A
A
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D014178:Translocation, Genetic