|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Aggressive juvenile polyposis in children with chromosome 10q23 deletion显示文摘Juvenile polyps are relatively common findings in children,while juvenile polyposis syndrome(JPS) is a rare hereditary syndrome entailing an increased risk of colorectal cancer.Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS.Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome.Several previous reports have described microdeletions in chromosome 10q23 encompassing both PTEN and BMPR1A causing aggressive polyposis and malignancy in childhood.These reports have also described extra-intestinal findings in most cases including cardiac anomalies,developmental delay and macrocephaly.In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly,developmental delay,short stature,hypothyroidism,atrial septal defect,ventricular septal defect and hypospadias.He required colectomy at six years of age,and early colectomy was a common outcome in other children with similar deletions.Due to the aggressive polyposis and reports of dysplasia and even malignancy at a young age,we propose aggressive gastrointestinal surveillance in children with 10q23 microdeletions encompassing the BMPR1A and PTEN genes to include both the upper and lower gastrointestinal tracts,and also include a flowchart for an effective genetic testing strategy in children with juvenile polyposis. | Seth Septer Lei Zhang Caitlin E Lawson Jose Cocjin Thomas Attard Holly H Ardinger | 2013 | World Journal of Gastroenterology2013，19，14： | 4 |
| 2 | Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation 显示文摘 | Grinberg I Northrup H Ardinger H | 2004 | Nat Genet2004，36，10： | 1 |
| 3 | Multidisciplinary treatment results for patients with isolated cleft palate 显示文摘 | Morris HL Bardach J Ardinger H | 1993 | Plast Reconstr Surg1993，92，： | 1 |
| 4 | Associ- ation of genetic variation of the transforming growth factor- aipha gene with cleft iip andpalate显示文摘 | ARDINGER H H BUETOW K H BELL G I | 1989 | Am J Hum Genet1989，45，3： | 1 |
| 5 | A child with terminal 14q deletion syndrome:consideration of genotype-phenotype correlations显示文摘 | Schlade-Bartusiak K Ardinger H Cox DW | 2009 | Am J Med Genet A2009，149，5： | 1 |
| 6 | Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate显示文摘 | ARDINGER H H BUETOW K H BELL G I | 1989 | Am J Hum Genet1989，45，： | 1 |
| 7 | Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation 显示文摘 | Grinberg I Northrup H Ardinger H | 2004 | Nat Genet2004，36，10： | 1 |
| 8 | Identification and evaluation of mental retardation 显示文摘 | Daily DK Ardinger H Holmes GE | 2000 | Am Faro Physician2000，61，4： | 1 |
| 9 | Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation显示文摘 | Grinberg I Northrup H Ardinger H | 2004 | Nat Genet2004，36，10： | 1 |
| 10 | Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation显示文摘 | Grinberg I Northrup H Ardinger H | 2004 | Nature Genet2004，36，10： | 1 |
| 11 | Association of genetic variation of the transforming growth factor alpha gene with cleft lip and palate显示文摘 | ARDINGER H H BUETOW K H BELL G I | 1989 | Am J Hum Genet1989，45，3： | 1 |
| 12 | Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate显示文摘 | Ardinger H H Buetow K H Bell G I | 1989 | Am J Hum Genet1989，45，3： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员