ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
CLINICAL CASE
Detection of chromosomal rearrangements in the short arms of chromosomes 4 and 12 as an example of a whole-genome approach to noninvasive prenatal testing
About authors
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia
Correspondence should be addressed: Andrey Yu. Goltsov
Akademika Oparina 4, Moscow, 117997; moc.liamg@vostlog.yerdna
About paper
Author contribution: Goltsov AYu, Mukosey IS — noninvasive prenatal screening; Shubina J, Kochetkova TO — data analysis; Kuznetsova MV — microarray analysis; Stupko OK — cytogenetic chromosome analysis; Barkov IYu — genetic counseling; Trofimov DYu, Rebrikov DV — manuscript writing, study supervision.
Received: 2019-05-24
Accepted: 2019-06-08
Published online: 2019-06-15
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Fig. 1. A visual representation of distribution of reads along the chromosome. The Y axis shows deviations in the read count from the reference values for the normal
genotype. А. Distribution of reads for chromosome 4. B. Distribution of reads for chromosome 12
Fig. 2. Results of the analysis of the amniotic fluid collected from patient P. showing a deletion on the short arm of chromosome 4
Fig. 3. Results of the analysis of the amniotic fluid collected from patient P. showing a duplication on the short arm of chromosome 12
Fig. 4. Patient P.’s karyotype
