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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease down syndrome
Symptom C0028303|nondisjunction
Sentences 2
PubMedID- 23056758 Such a profile might be seen in two conditions: isochromosome 21 or trisomy 21 with nondisjunction in meiosis ii without any crossing over occurred in meiosis i. qf-pcr could not differentiate these conditions, but karyotype analyses of that sample confirmed trisomy (fig.
PubMedID- 26017139 down syndrome (ds, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis.

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