Pseudoisodicentric Xp Chromosome [46,X,psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development

Abstract

Background: Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. Cases: The first girl was referred at 13 years with a short stature and pubertal delay (M1, P2, A1). Her height was 141.6 cm (-3.1 SDS). Ovarian failure was present. The second girl was referred because of her short stature at 12.5 years. Her height was 142.2 cm (-2.4 SDS). She had spontaneous puberty (M3, P1, A1). Results: In both girls, conventional karyotyping of lymphocytes revealed an aberrant X chromosome consisting of twice the short arm and a small part of the long arm of the X chromosome [nonmosaic 46,X,psu idic(X)(q21.1)]. FISH analysis of the aberrant X chromosome showed the presence of two centromeres, two copies of the XIST gene and two copies of the SHOX gene. Conclusions: The presence of two XIST genes on the isodicentric X chromosome with Xq deletion indicates the inactivation of this chromosome. This inactivation also concerned the pseudoautosomal regions which caused haploinsufficiency of the SHOX genes. The girls were treated with growth hormones. The critical region (Xq23 to Xq28) for the ovarian function was deleted in both patients, but the gonadal function was variable.

A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

“…Eventually, there might be a positive correlation between the position of the X chromosome duplicated region and the growth deficit. A possible explanation is that the rearranged X chromosome with Xq duplication, could, as well as a deletion, cause alteration of chromatin structure and induce inactivation process of some genes on the X chromosome that are normally active (with possible involvement of the PAR 1 region where the SHOX gene is located and the result of its haploinsufficiency) [28].…”