Q97: Other sex chromosome abnormalities, female phenotype, not elsewhere classified

Sex chromosome abnormalities with a female phenotype under the Q97 code refer to a group of genetic conditions where an individual genetically identified as female exhibits variants in their sex chromosomes that deviate from the typical XX configuration. These chromosomal variants can arise due to errors during the division of parent cells and are present from birth. Common forms of these conditions include Turner Syndrome (a single X chromosome), Klinefelter Syndrome (more than one X chromosome), and Triple X Syndrome (three X chromosomes). Symptoms can vary broadly but may include physical abnormalities, developmental delays, learning difficulties, and hormonal imbalances affecting the reproductive system. The progression of these conditions depends largely on the specific chromosomal variant, and while some associated challenges can be managed, these are lifelong conditions that alter many aspects of an individual's health and development.