Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
Joint Authors
Toshimitsu, Masatake
Nagaoka, Shinichi
Murotsuki, Jun
Kobori, Shusaku
Ogawa, Maki
Suzuki, Fumihiko
Kato, Takema
Miyai, Shunsuke
Kawamura, Rie
Inagaki, Hidehito
Kurahashi, Hiroki
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-10-02
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Toshimitsu, Masatake& Nagaoka, Shinichi& Kobori, Shusaku& Ogawa, Maki& Suzuki, Fumihiko& Kato, Takema…[et al.]. 2019. Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome. Case Reports in Obstetrics and Gynecology،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1141720
Modern Language Association (MLA)
Toshimitsu, Masatake…[et al.]. Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome. Case Reports in Obstetrics and Gynecology No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1141720
American Medical Association (AMA)
Toshimitsu, Masatake& Nagaoka, Shinichi& Kobori, Shusaku& Ogawa, Maki& Suzuki, Fumihiko& Kato, Takema…[et al.]. Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome. Case Reports in Obstetrics and Gynecology. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1141720
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1141720