The two year old proband has multiple malformations and severe developmental delay. Her karyotype is 46, XY, -9, +rec(9), dup p, inv(9)(q22.1q34.3)mat, with a net duplication of 9pter←q22.1 and ...
Chromosomal translocations and inversions are present in ∼0.6–1% of individuals. Although the majority are inherited, and the familial transmission across generations is well reported, reports of ...
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