Particularity of genetic counseling in case of a family carriers of structural aberration of chromosome 6 | Zendy

Aleksey Nikolayevich Volkov | Zendy; Rimma Vitalievna Olennikova | Zendy; Oksana Ivanovna Ritenkova | Zendy

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Particularity of genetic counseling in case of a family carriers of structural aberration of chromosome 6

Author(s) -

Aleksey Nikolayevich Volkov,

Rimma Vitalievna Olennikova,

Oksana Ivanovna Ritenkova

Publication year - 2015

Publication title -

journal of obstetrics and women s diseases

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.

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