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The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz GBBB: Case Report and Literature Review
Joint Authors
Spinelli, Marialuigia
Sica, Carmine
Dallapiccola, Bruno
Novelli, Antonio
Di Meglio, Letizia
Martinelli, Pasquale
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-04
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Spinelli, Marialuigia& Sica, Carmine& Dallapiccola, Bruno& Novelli, Antonio& Di Meglio, Letizia& Martinelli, Pasquale. 2015. The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz GBBB: Case Report and Literature Review. Case Reports in Obstetrics and Gynecology،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1059196
Modern Language Association (MLA)
Spinelli, Marialuigia…[et al.]. The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz GBBB: Case Report and Literature Review. Case Reports in Obstetrics and Gynecology No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1059196
American Medical Association (AMA)
Spinelli, Marialuigia& Sica, Carmine& Dallapiccola, Bruno& Novelli, Antonio& Di Meglio, Letizia& Martinelli, Pasquale. The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz GBBB: Case Report and Literature Review. Case Reports in Obstetrics and Gynecology. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1059196
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059196