TY  - JOUR
AU  - Tkachuk, Elena A.
AU  - Kurenkova, Galina
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  - Tkachuk2024
ER  -