Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array‐comparative genomic hybridization

Background There are only three cases of unbalanced translocation (X;1) reported in childhood in the literature, while no such phenotypic information is available in adults. Materials and methods To delineate the phenotype–genotype relationship of unbalanced translocation (X;1) in adulthood, we reported here a 20‐year‐old female with an unbalanced translocation (X;1) which was determined by spectral karyotyping, array‐comparative genomic hybridization and subtelomeric fluorescence in situ hybridization (FISH). Results The phenotype of partial trisomy 1 and partial monosomy X of the present case was much attenuated, including premature ovarian failure, mental retardation, class I obesity, mild dysmorphism and delayed secondary sexual characteristics. The breakpoints of the unbalanced translocation were accurately located at Xq28 and 1q32·1. The large amplification on Chromosome 1 q arm was found to involve 312 genes and the deletion on Chromosome X q arm also involved 141 genes. Overall, genes associated with physiological process (47 genes), cellular process (33), development (23), response to stimulus (1) and reproduction (1) were observed in the amplification on Chromosome 1 q arm. In addition, genes related to physiological process (23 genes), cellular process (13), development (6) and response to stimulus (2) were observed in the large deletion on chromosome X q arm. Late‐replication studies revealed the existence of skewed X inactivation in the derivative X chromosome. Conclusions The phenotype of partial monosomy X and partial trisomy 1q is much attenuated in case of unbalanced translocation (X;1) in adulthood probably owing to skewed X inactivation in derivative X chromosome.