Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies
Joint Authors
Khattak, Shahzaib
Jan, Meryam
Warsi, Sara
Khattak, Sohail
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-11
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature.
Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us.
Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2.
The patient generates considerable curiosity due to the rarity of her case, which includes a de novo partial duplication involving the JAG1 gene.
The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect.
She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation.
Deletions in JAG1 are often linked to Alagille Syndrome; however, complete duplications have not been specifically identified as disease-causing.
JAG1 mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures).
This particular microduplication is rare, and thus, limited data exist regarding its significance.
To our knowledge, most reported duplications are larger than 0.797 Mb.
This may define a critical region causing phenotypical changes in some patient cases.
American Psychological Association (APA)
Khattak, Shahzaib& Jan, Meryam& Warsi, Sara& Khattak, Sohail. 2020. Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1147252
Modern Language Association (MLA)
Khattak, Shahzaib…[et al.]. Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies. Case Reports in Genetics No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1147252
American Medical Association (AMA)
Khattak, Shahzaib& Jan, Meryam& Warsi, Sara& Khattak, Sohail. Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1147252
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147252