P686: A rare Iso-Xq variant in Klinefelter syndrome: Newborn case study
Abstract
Although reported cases of individuals with 47, XY,i(Xq) are limited, affected individuals generally exhibit clinical features similar to those with classic 47,XXY KS, including infertility, small testicular size, and elevated levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Compared to classic KS, individuals with the iso (Xq) variant tend to have low to normal testosterone levels, near-normal stature and intelligence, and typical androgenization. These phenotypic differences may be related to dosage sensitivity of the SHOX (short stature homeobox-containing) gene, located on the short arm (Xp) of the X chromosome.
Fields of Study & Subjects
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Sexual Differentiation and Disorders
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104176–104176
- Publication date
- 1 January 2026
- Language
- EN