Trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations

Abstract excerpt

A six-year-old male presented with multiple congenital anomalies, mental retardation, developmental delay, and an increased frequency of upper and lower respiratory infections and deficiency of all blood lymphocyte populations. Chromosome analysis showed an unbalanced translocation involving chromosomes 4 and 13, leading to partial trisomy for 4pter-q12 and partial monosomy for 13pter-q13 [karyotype,...

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