Developmental abnormalities in a patient with karyotype 46,XX,bq+.
نویسندگان
چکیده
منابع مشابه
Familial glioblastoma.
The authors describe a family with three members affected by glioblastoma. The proband patient, a 7 year-old girl, developed a rare complication, a pulmonary metastasis. Chromosomal analysis of her peripheral blood lymphocytes showed a normal karyotype (46, XX), without structural abnormalities. Cytogenetic study of the tumor cells disclosed several abnormalities: 46, XX, 7q-/46, XX, -2, 4p-, 7...
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BACKGROUND In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyot...
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OBJECTIVE To develop a mathematical model for more precise estimation of the incidence of chromosomal abnormalities and the sex ratio among spontaneous abortions masked by maternal cell contamination. DESIGN Retrospective analysis. SETTING Academic medical center. PATIENT(S) One hundred twelve samples of spontaneous abortion with a "46,XX" karyotype and 97 parents with aborted embryos. ...
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Dystonia associated with chromosomal abnormalities is typically attributed to chromosomal deletions. We describe a patient with ring chromosome 21, with karyotype 46XX,r(21)(p11.2q22.3); 46,XX,dic r(21)(p11.2q22.3); 45, XX, -21, who developed childhood onset cervical dystonia.
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عنوان ژورنال:
- Journal of medical genetics
دوره 7 2 شماره
صفحات -
تاریخ انتشار 1970