Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
| العنوان: | Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome |
|---|---|
| المؤلفون: | Takema Kato, Maki Ogawa, Masatake Toshimitsu, Hidehito Inagaki, Hiroki Kurahashi, Fumihiko Suzuki, Shinichi Nagaoka, Shuusaku Kobori, Rie Kawamura, Shunsuke Miyai, Jun Murotsuki |
| المصدر: | Case Reports in Obstetrics and Gynecology Case Reports in Obstetrics and Gynecology, Vol 2019 (2019) |
| بيانات النشر: | Hindawi, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Multiple abnormalities, Fetus, Pathology, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, 1p36 deletion syndrome, business.industry, Obstetrics and Gynecology, Prenatal diagnosis, Case Report, medicine.disease, lcsh:Gynecology and obstetrics, 03 medical and health sciences, 0302 clinical medicine, Chromosomal region, medicine, business, Exome, 030217 neurology & neurosurgery, Exome sequencing, lcsh:RG1-991, Ventriculomegaly |
| الوصف: | Background. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia. Chromosome 1p36 deletion syndrome is the most common subtelomeric terminal deletion syndrome, recognized postnatally from typical craniofacial features. However, the influence of chromosome 1p36 deletion on fetal movements remains unknown. Case Report. A 32-week-old fetus with akinesia showed multiple abnormalities, including fetal growth restriction, congenital cardiac defects, and ventriculomegaly. G-banding analysis using cultured amniocytes revealed 46,XY,22pstk+. Postnatal whole exome sequencing and subsequent chromosomal microarray identified a 3 Mb deletion of chromosomal region 1p36.33–p36.32. These results of molecular cytogenetic analyses were consistent with the fetal sonographic findings. Conclusion. Using the exome-first approach, we identified a case with fetal akinesia associated with chromosome 1p36 deletion. Chromosome 1p36 deletion syndrome may be considered for differential diagnosis in cases of fetal akinesia with multiple abnormalities. |
| اللغة: | English |
| تدمد: | 2090-6692 2090-6684 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91f8f5c9e425513a7cc2972201d0664Test http://europepmc.org/articles/PMC6791227Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d91f8f5c9e425513a7cc2972201d0664 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20906692 20906684 |
|---|