Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

المؤلفون المشاركون

Toshimitsu, Masatake
Nagaoka, Shinichi
Murotsuki, Jun
Kobori, Shusaku
Ogawa, Maki
Suzuki, Fumihiko
Kato, Takema
Miyai, Shunsuke
Kawamura, Rie
Inagaki, Hidehito
Kurahashi, Hiroki

المصدر

Case Reports in Obstetrics and Gynecology

العدد

المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-5، 5ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2019-10-02

دولة النشر

مصر

عدد الصفحات

5

التخصصات الرئيسية

الأمراض

الملخص 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.

نمط استشهاد جمعية علماء النفس الأمريكية (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

نمط استشهاد الجمعية الأمريكية للغات الحديثة (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

نمط استشهاد الجمعية الطبية الأمريكية (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

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1141720