Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2–qter deletion, 11q24.3–qter duplication and Xq22.3–q27.1 duplication in a girl with primary amenorrhea and mental retardation

Turner syndrome caused by rare complex structural abnormalities involving chromosome X

“…Furthermore, the duplications and deletions always appeared in the form of a cross in the two patients, indicating that the duplications compensated for the loss of genetic material that was involved in deletions. To the best of our knowledge, the genotype of case 1 has not previously been reported in the literature, whereas case 2 is partly similar to a previously reported case that presented a karyotype of 46,X,der(X) t(X;11)(q27.2;q24.3)dup(X)(q27.1q22.3) (15). Array comparative genomic hybridization revealed an Xq27.2-q28 deletion, an 11q24.3-q25 duplication and an inverted duplication of Xq22.3-q27.1 in this previous patient, who presented with primary amenorrhea and mental retardation.…”

A novel 47.2Mb duplication on chromosomal bands Xq21.1–25 associated with mental retardation

“…However, there is phenotypic diversity in females with dup(X) because of functional disomy restricted to the duplicated material on the X chromosome (Chen et al, 2014), inter-individual differences in the X-inactivation pattern and expression of recessive mutant genes on the active X chromosome, or gene disruption by chromosome rearrangement (Armstrong et al, 2003). In our case, the duplication region was large, which did not influence the X inactivation pattern, but seemed to be associated with an abnormal phenotype.…”

Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?

“…These two patients exhibited a normal phenotype (without mental impairments or developmental delays), suggesting that no gene disruption had occurred. Deletion or duplication of this telomere tip (Xq27-28 / Xqter) did not induce a deleterious phenotype (48), in contrast to some disrupted genes with Xq breakpoint translocation associated with multiple congenital anomalies and/or developmental delay or fertility issues (7,(52)(53)(54).…”