Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002880:Chromosomes, Human, Pair 11; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male