A case report of concomitant myopathy, adrenal insufficiency, and mental retardation linked with deletion of Xp21
Орлова Е. М., Куркина М. В., Созаева Л. С., Карева М. А., Канивец И. В., Антонец А. В., Захарова Е. Y.
Проблемы эндокринологии
Т. 63, Вып. 5, С. 329-333
Опубликовано: 2017
Тип ресурса: Статья
DOI:10.14341/probl2017635329-333
Аннотация:
Contiguous gene syndromes (CGS) are the disorders caused by chromosomal abnormalities: Deletions, duplications, or other complex rearrangements that alter gene dosage. Initially, before their chromosomal nature is elucidated, they may be misdiagnosed as monogenic disorders depending on the leading clinical symptom cluster. The altered chromosomal region in individuals with this condition is typically less than 5 Mb in size and sometimes cannot be identified by conventional karyotyping. Patients present with signs of the diseases associated with each individual monogenic disorder. The Xp21-linked genetic syndrome, or glycerol kinase deficiency (GKD) (MIM 300474), is an example of this syndrome [1-3]. The genes coding for glycerol kinase (GK), congenital adrenal hypoplasia (NR0B1), and dystrophin (DMD) follow each other in the Xp21.2-p21.3 region. Deletions of an X-chromosome region may cause several monogenic disorders in one patient, including primary adrenal insufficiency and hypogona
Ключевые слова:
Adrenal insufficiency; Deletion of Xp21.; Duchenne muscular dystrophy; Glycerol kinase deficiency
Язык текста: Русский
ISSN: 2308-1430
Орлова Е. М. Елизавета Михайловна 1977-
Куркина М. В.
Созаева Л. С.
Карева М. А.
Канивец И. В.
Антонец А. В.
Захарова Е. Y.
Orlova E. M. Elizaveta Mikhaylovna 1977-
Kurkina M. V.
Sozaeva L. S.
Kareva M. A.
Kanivets I. V.
Antonets A. V.
Zakharova E. Y.
A case report of concomitant myopathy, adrenal insufficiency, and mental retardation linked with deletion of Xp21
Текст визуальный непосредственный
Проблемы эндокринологии
Издательство Медиа Сфера
Т. 63, Вып. 5 С. 329-333
2017
Статья
Adrenal insufficiency Deletion of Xp21. Duchenne muscular dystrophy Glycerol kinase deficiency
Contiguous gene syndromes (CGS) are the disorders caused by chromosomal abnormalities: Deletions, duplications, or other complex rearrangements that alter gene dosage. Initially, before their chromosomal nature is elucidated, they may be misdiagnosed as monogenic disorders depending on the leading clinical symptom cluster. The altered chromosomal region in individuals with this condition is typically less than 5 Mb in size and sometimes cannot be identified by conventional karyotyping. Patients present with signs of the diseases associated with each individual monogenic disorder. The Xp21-linked genetic syndrome, or glycerol kinase deficiency (GKD) (MIM 300474), is an example of this syndrome [1-3]. The genes coding for glycerol kinase (GK), congenital adrenal hypoplasia (NR0B1), and dystrophin (DMD) follow each other in the Xp21.2-p21.3 region. Deletions of an X-chromosome region may cause several monogenic disorders in one patient, including primary adrenal insufficiency and hypogona