Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally
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 abnorma...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2018/2875241 |
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| author | Akihiro Hasegawa Osamu Samura Taisuke Sato Tomona Matsuoka Yuki Ito Kazuhiro Kajiwara Hiroaki Aoki Yuka Inage Masahisa Kobayashi Aikou Okamoto |
| author_facet | Akihiro Hasegawa Osamu Samura Taisuke Sato Tomona Matsuoka Yuki Ito Kazuhiro Kajiwara Hiroaki Aoki Yuka Inage Masahisa Kobayashi Aikou Okamoto |
| author_sort | Akihiro Hasegawa |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-87fc1f46183d4d55b6d841a6e1936389 |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-87fc1f46183d4d55b6d841a6e19363892025-02-03T01:10:59ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922018-01-01201810.1155/2018/28752412875241Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected PrenatallyAkihiro Hasegawa0Osamu Samura1Taisuke Sato2Tomona Matsuoka3Yuki Ito4Kazuhiro Kajiwara5Hiroaki Aoki6Yuka Inage7Masahisa Kobayashi8Aikou Okamoto9Department of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanDepartment of Pediatrics, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105–8461, JapanDepartment of Pediatrics, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105–8461, JapanDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo 105-8461, JapanWe 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.http://dx.doi.org/10.1155/2018/2875241 |
| spellingShingle | Akihiro Hasegawa Osamu Samura Taisuke Sato Tomona Matsuoka Yuki Ito Kazuhiro Kajiwara Hiroaki Aoki Yuka Inage Masahisa Kobayashi Aikou Okamoto Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally Case Reports in Obstetrics and Gynecology |
| title | Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally |
| title_full | Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally |
| title_fullStr | Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally |
| title_full_unstemmed | Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally |
| title_short | Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally |
| title_sort | characterization of a small supernumerary marker chromosome derived from xq28 and 14q11 2 detected prenatally |
| url | http://dx.doi.org/10.1155/2018/2875241 |
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