V Ramesh Bebu

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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 deficiency of distal 9q34.3←qter. The rec(9) was derived by two crossovers, one within the inversion loop. The mother's karyotype is 46, XX, inv(9)(q22.1q34.3). Her(More)
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