[Study of CATCH 22: genetic aspects].
Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to be identified. A list of gene candidates responsible for manifestations of CATCH 22 and data on how pathological phenotypes are developing in model objects are presented.
Antonenko
V G
VG
Ivanov
V I
VI
Konstantinova
L M
LM
Levina
L Ia
LIa
Mglinets
V A
VA
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000235:genetics*; D005819:Genetic Markers; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics*; D019767:Maxillofacial Abnormalities / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D013950:Thymus Gland / Q000002:abnormalities*
D005819:Genetic Markers; D011506:Proteins