تقرير
A de novo partial trisomy 9p with Dandy-Walker malformation and ventriculomegaly.
| العنوان: | A de novo partial trisomy 9p with Dandy-Walker malformation and ventriculomegaly. |
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| المؤلفون: | Kuan CY; Department of Obstetrics and Gynecology, Chi Mei Medical Center, Tainan, Taiwan., Tai CJ; Department of Family Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Family Medicine, Pingtung Hospital, Ministry of Health and Welfare, Pingtung, Taiwan., Shyu IL; Department of Obstetrics and Gynecology, Chi Mei Medical Center, Tainan, Taiwan. Electronic address: allen12101982@yahoo.com.tw., Tsai YC; Department of Obstetrics and Gynecology, Chi Mei Medical Center, Tainan, Taiwan., Kuo TN; Department of Obstetrics and Gynecology, Chi Mei Medical Center, Tainan, Taiwan. Electronic address: xixitk98@gmail.com. |
| المصدر: | Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2022 Nov; Vol. 61 (6), pp. 1077-1081. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2007- : Taipei, Taiwan : Elsevier Original Publication: Hong Kong : Elsevier (Singapore) |
| مواضيع طبية MeSH: | Dandy-Walker Syndrome*/genetics , Abnormalities, Multiple*/genetics , Hydrocephalus*/genetics, Humans ; Infant, Newborn ; Female ; Trisomy/genetics |
| مستخلص: | Objective: We present a female neonate with de novo trisomy 9p24.3-q21.2 presented with a neurological anomaly. Case Report: Her birth length was 41 cm (<3rd percentile), birth body weight was 1600 g (<5th percentile), and head circumference was 29.5 cm (<5th percentile). She had low-set ears, deep and wide-set eyes with downslanting palpebral fissures, and a full nasal bridge with a globular nose. In addition, a rocker bottom foot was noted after further evaluation. Congenital heart anomalies, including patent ductus arteriosus (0.43 cm), large atrial septal defect, and malalignment ventricular septal defect (0.64 cm) were also confirmed. Brain magnetic resonance imaging showed partial agenesis of the cerebellum and corpus callosum. Furthermore, severe bilateral communicating hydrocephalus was found. CTG-banded chromosome analysis revealed 47, XX, +mar. Conclusion: DNA analysis may be mandatory for small gene segments. In trisomy 9p, we proposed further delineation of the critical region correlating to neurological malformations. Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article. (Copyright © 2022. Published by Elsevier B.V.) |
| فهرسة مساهمة: | Keywords: Dandy-Walker malformation; Trisomy 9p; Ventriculomegaly |
| SCR Disease Name: | Chromosome 9, partial trisomy 9p |
| تواريخ الأحداث: | Date Created: 20221125 Date Completed: 20221129 Latest Revision: 20221129 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.tjog.2022.05.018 |
| PMID: | 36427979 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1875-6263 |
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| DOI: | 10.1016/j.tjog.2022.05.018 |