التفاصيل البيبلوغرافية
| العنوان: |
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. |
| المؤلفون: |
Qi Li1 lilong23@126.com, Zhen Zhang1, Yuchun Yan2, Ping Xiao3, Zhijie Gao4, Wei Cheng5,6, Lin Su7, Kaihui Yu8, Hua Xie9, Xiaoli Chen9, Qian Jiang10, Long Li1 |
| المصدر: |
Molecular Cytogenetics (17558166). 12/15/2015, Vol. 8, p1-6. 6p. |
| مصطلحات موضوعية: |
*PANCREAS, *GENETIC disorders, *CRANIOFACIAL abnormalities, *SKELETAL abnormalities, *GENE expression, *DISEASES in girls |
| مستخلص: |
Background: Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome. Case Presentation: Herewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II. Conclusions: A contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating a de novo origin of the deletion and complete penetrance of the mutation. [ABSTRACT FROM AUTHOR] |
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