Rare Diseases Symptoms Automatic Extraction

Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

[monosomy 21]

A three and a half year old mildly retarded boy is presented. Karyotyping showed monosomy 21 (45,XY,-21) in all 50 metaphase spreads examined from two lymphocyte cultures, and in 20% of cells examined from cultured fibroblasts; the remaining 80% of cells showed a ring 21 chromosome (46,XY,r(21)(p1q22]. Molecular studies using chromosome 21 specific DNA probes confirmed the monosomy in blood and showed that the ring 21 chromosome was paternal in origin. Parental karyotypes were normal.

Diseases presenting "mildly retarded boy" symptom

  • monosomy 21

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