Summary
A psychomotor-retarded infant with minor dysmorphic signs and a karyotype 46.XY,r(21)mat in lymphocytes is reported. The mother is phenotypically normal but shows the same unstable r(21). This is another case demonstrating that a chromosomal aberration does not necessarily lead to infertility by meiotic failure. Nevertheless, segregation of ring chromosomes is problematic for two reasons: mitotic problems of the ring structure itself and synaptic difficulties during the pachytene stage.
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Kennerknecht, I., Barbi, G. & Vogel, W. Maternal transmission of ring chromosome 21. Hum Genet 86, 99–101 (1990). https://doi.org/10.1007/BF00205185
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DOI: https://doi.org/10.1007/BF00205185