![](/images/graphics-bg.png)
Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features
المؤلفون المشاركون
Riley, Jacquelyn D.
Stefaniuk, Catherine M.
Erenberg, Francine
Erwin, Angelika L.
Palange, Lauren
Astbury, Caroline
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-07-25
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities.
Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects.
Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis.
Family history was noncontributory.
Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1.
FISH analysis confirmed that the duplication was inverted.
Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding.
Many of our patient’s features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay.
Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia.
The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome.
This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Riley, Jacquelyn D.& Stefaniuk, Catherine M.& Erenberg, Francine& Erwin, Angelika L.& Palange, Lauren& Astbury, Caroline. 2019. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1136042
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Riley, Jacquelyn D.…[et al.]. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Reports in Genetics No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1136042
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Riley, Jacquelyn D.& Stefaniuk, Catherine M.& Erenberg, Francine& Erwin, Angelika L.& Palange, Lauren& Astbury, Caroline. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1136042
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1136042
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
![](/images/ebook-kashef.png)
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
![](/images/kashef-image.png)