Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally
Joint Authors
Kajiwara, Kazuhiro
Okamoto, Aikou
Hasegawa, Akihiro
Samura, Osamu
Sato, Taisuke
Matsuoka, Tomona
Ito, Yuki
Aoki, Hiroaki
Inage, Yuka
Kobayashi, Masahisa
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-05-07
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
We present the characterization of a case with a small supernumerary marker chromosome (sSMC) detected prenatally derived from Xq28 and 14q11.2 maternal translocation.
A 33-year-old Japanese woman, primigravida, underwent amniocentesis because of fetal growth restriction and fetal structural abnormality at 30 weeks of gestation.
The fetal karyotype was identified as 47,XY,+mar.
Additionally, the single nucleotide polymorphism array analysis revealed copy number gains at Xq28 and 14q11.2.
A male infant, weighing 1,391 g, was delivered at term by cesarean section.
Maternal and paternal karyotypes were 46,X,t(X; 14)(q28; q11) and 46,XY, respectively.
These findings indicated that the sSMC might have originated from chromosome disjunction at a ratio of three to one.
Here we describe a case with an sSMC derived from Xq28 and 14q11.2.
Our findings suggest that this sSMC is most likely pathogenic.
The collection of additional cases may be required.
American Psychological Association (APA)
Hasegawa, Akihiro& Samura, Osamu& Sato, Taisuke& Matsuoka, Tomona& Ito, Yuki& Kajiwara, Kazuhiro…[et al.]. 2018. Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally. Case Reports in Obstetrics and Gynecology،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1145671
Modern Language Association (MLA)
Hasegawa, Akihiro…[et al.]. Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally. Case Reports in Obstetrics and Gynecology No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1145671
American Medical Association (AMA)
Hasegawa, Akihiro& Samura, Osamu& Sato, Taisuke& Matsuoka, Tomona& Ito, Yuki& Kajiwara, Kazuhiro…[et al.]. Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally. Case Reports in Obstetrics and Gynecology. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1145671
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145671