The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review
Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unles...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2015/830108 |
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| author | Marialuigia Spinelli Carmine Sica Bruno Dallapiccola Antonio Novelli Letizia Di Meglio Pasquale Martinelli |
| author_facet | Marialuigia Spinelli Carmine Sica Bruno Dallapiccola Antonio Novelli Letizia Di Meglio Pasquale Martinelli |
| author_sort | Marialuigia Spinelli |
| collection | DOAJ |
| description | Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing of MID1 gene (Xp22.3) at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis. |
| format | Article |
| id | doaj-art-09ffdc6c368d45f082ef0df749ed1fe7 |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-09ffdc6c368d45f082ef0df749ed1fe72025-08-20T03:55:27ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922015-01-01201510.1155/2015/830108830108The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature ReviewMarialuigia Spinelli0Carmine Sica1Bruno Dallapiccola2Antonio Novelli3Letizia Di Meglio4Pasquale Martinelli5Department of Neurosciences, Reproductive Sciences and Odontostomatoloy, University of Naples Federico II, 80100 Naples, ItalyPrivate Prenatal Diagnostic Centre “Diagnostica ecografica Aniello Di Meglio s.r.l.”, 80100 Naples, ItalyDepartment of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00146 Rome, ItalyDepartment of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00146 Rome, ItalyPrivate Prenatal Diagnostic Centre “Diagnostica ecografica Aniello Di Meglio s.r.l.”, 80100 Naples, ItalyDepartment of Neurosciences, Reproductive Sciences and Odontostomatoloy, University of Naples Federico II, 80100 Naples, ItalyBackground. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing of MID1 gene (Xp22.3) at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.http://dx.doi.org/10.1155/2015/830108 |
| spellingShingle | Marialuigia Spinelli Carmine Sica Bruno Dallapiccola Antonio Novelli Letizia Di Meglio Pasquale Martinelli The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review Case Reports in Obstetrics and Gynecology |
| title | The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review |
| title_full | The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review |
| title_fullStr | The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review |
| title_full_unstemmed | The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review |
| title_short | The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review |
| title_sort | challenge of prenatal diagnostic work up of maternally inherited x linked opitz g bbb case report and literature review |
| url | http://dx.doi.org/10.1155/2015/830108 |
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