TY - JOUR AU - Elena Anatolyevna, Tkachuk AU - Galina Vladimirovna, Kurenkova PY - 2024 DA - 2024/02/28 TI - The Jacobs Syndrome: Clinical Case JO - OBM Genetics SP - 218 VL - 08 IS - 01 AB - This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that the challenge in diagnosing disorders of sex development is associated with the polymorphic clinical manifestations of this syndrome. It is noted that the presence of Y-chromosome dysomy is one of the most common chromosomal abnormalities, ranking third after Down syndrome and Klinefelter syndrome. It is often found that this pathology results in anomalies in genital development. A Y-chromosome polysomy is associated with variable phenotypic manifestations in gonadal development disorders. SN - 2577-5790 UR - https://doi.org/10.21926/obm.genet.2401218 DO - 10.21926/obm.genet.2401218 ID - Elena Anatolyevna2024 ER -