Open AccessParticularity of genetic counseling in case of a family carriers of structural aberration of chromosome 6
Author(s) -
Alexey N. Volkov,
Rimma Vitalievna Olennikova,
Oksana Ivanovna Ritenkova
Publication year - 2015
Publication title -
žurnalʺ akušerstva i ženskihʺ boleznej
Language(s) - English
Resource type - Journals
eISSN - 1684-0461
pISSN - 1683-9366
DOI - 10.17816/jowd645106-109
Subject(s) - proband , genetic counseling , chromosome aberration , medicine , prenatal diagnosis , genetic diagnosis , genetics , genetic testing , chromosome , pregnancy , mutation , biology , fetus , gene
We discuss the case of a family carriers of structural chromosomal aberration del(6)(q24) in two generations. For the first time revealed in 2 year old girl, the aberration has become a reason for family medical and genetic examination, including prenatal cytogenetic diagnosis. The results of clinical and genetic testing of the proband were compared with published data.