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

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, 46, XY,+der(4)t(4;13)(q12;q12),-13)]. The mother is the carrier of a balanced translocation involving chromosomes 4 and 13. The translocation is known to be segregating for three generations in this family. The child was found to have deficiency of all blood lymphocyte populations, but other hemopoietic lineages appeared to be normal. In addition, his fresh T cells were principally CD45RA⁺, CD62L⁺, and deficient in the Fas receptor. This deficiency of all blood lymphocyte populations may be due to an overdose of a gene or genes located in the region of chromosome 4 or a partial deficiency of a gene or genes in the region of chromosome 13 that regulate the development of the lymphocyte lineage. Since the mother contributed two copies of chromosomal region 4pter-q12 and no copy of 13pter-q12, the deficiency of all blood lymphocyte populations in our patient may be the result of either uniparental disomy or imprinting. A maternal granduncle with dissimilar dysmorphic features was not lymphopenic but was neutropenic.