Summary
A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.
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Serena-Lungarotti, M., Calabro, A., Mariotti, G. et al. Interstitial deletion 13q syndromes: A report on two unrelated patients. Hum Genet 52, 269–274 (1979). https://doi.org/10.1007/BF00278676
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DOI: https://doi.org/10.1007/BF00278676