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Eur J Hum Genet. 2000 Aug;8(8):637-40.

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.

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  • 1Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands. T.Kleefstra@antrg.azn.nl


Recently, much attention has been given to subtelomeric chromosomal rearrangements as important aetiological factors leading to idiopathic mental retardation. However, detection of these aberrations is difficult, mostly due to technical limitations and lack of genotype-phenotype relationships. We report on a family with a history suggestive of segregation of a chromosomal anomaly. In two mildly mentally retarded sisters with a similar phenotype consisting of obesitas, skin atrophy of the lower limbs and mild facial dysmorphisms, a subtle unbalanced cryptic translocation (46,XX,der(13)t(8;13)(q24.3;q34)) was detected on routine cytogenetic investigation followed by additional FISH studies. The translocation originated from the mother.

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