Summary
A neonate with clinical features of the 11q23 deletion syndrome was apparently mosaic with the dominant cell line showing deletion of the chromosomal segment 11q23.3 to 11qter. The presence of a few lymphocytes with a normal karyotype indicates post-zygotic deletion of chromosome 11. The mother and brother of the propositus show folate-sensitive fragility at band 11q23.3. This case indicates in vivo deletion at a folate-sensitive fragile site.
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Voullaire, L.E., Webb, G.C. & Leversha, M.A. Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23. Hum Genet 76, 202–204 (1987). https://doi.org/10.1007/BF00284923
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DOI: https://doi.org/10.1007/BF00284923