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Mol Cytogenet. 2015 Dec 15;8:95. doi: 10.1186/s13039-015-0201-0. eCollection 2015.

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.

Author information

1
Department of Pediatric Surgery, Capital Institute of Pediatrics, No. 2 Yabao Rd, Beijing, 100020 China.
2
2Department of Radiology, Capital Institute of Pediatrics Affiliated Children's Hospital, Beijing, China.
3
Department of Pathology, Capital Institute of Pediatrics Affiliated Children's Hospital, Beijing, China.
4
Department of Neurology, Capital Institute of Pediatrics Affiliated Children's Hospital, Beijing, China.
5
Department of Surgery, Beijing United Family Hospital, Beijing, China ; Department of Paediatrics and Surgery, Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia.
6
Reproductive Medicine Center, Clinical College of PLA Affiliated Anhui Medical University, Hefei, China.
7
Department of Pathophysiology, School of Preclinical Sciences, Guangxi Medical University, Nanning, China.
8
Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.
9
Department of Medical Genetics, Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.

Abstract

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.

KEYWORDS:

8q23.3-q24.12 deletion; Annular pancreas; Chinese; Trichorhinophalangeal syndrome type II; qPCR

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