Possible excess of mental handicap and congenital malformations in autosomal reciprocal translocations.
The most pertinent data of the 32 cases of reciprocal autosomal translocations detected in the laboratory since the initiation of the banding-techniques are summarized. One third of these balanced translocations were detected in patients presenting with mental handicap and/or malformative symptoms.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic