Balanced Chromosomal Rearrangement Detection by Low‐Pass Whole‐Genome Sequencing
نویسندگان
چکیده
منابع مشابه
Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report
One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16 6) (p12 q26) and 46, X...
متن کاملbalanced chromosomal rearrangement in recurrent spontaneous abortions: a case report
one of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. we report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. chromosomal studies were performed on the basis of g-banding technique at high resolution and revealed 46, xx, t (16 6) (p12 q26) and 46, x...
متن کاملBalanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report
One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16; 6) (p12; q26) and 46,...
متن کاملA robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing.
Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a common chromosomal structural variation. Next-generation sequencing has been reported to detect BCA-associated breakpoints with the aid of karyotyping. However, the complications associated with this approach and the requirement for cytogenetics information has limited its application. Here, we provide a whole-gen...
متن کاملBreakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
BACKGROUND Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruption for the development NSC. We applied a whole genome sequencing approach on a...
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ژورنال
عنوان ژورنال: Current Protocols in Human Genetics
سال: 2018
ISSN: 1934-8266,1934-8258
DOI: 10.1002/cphg.51