scholarly journals Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome

2017 ◽  
Vol 17 (1) ◽  
pp. 71-77 ◽  
Author(s):  
Erin E. Salo-Mullen ◽  
Patricio B. Lynn ◽  
Lu Wang ◽  
Michael Walsh ◽  
Anuradha Gopalan ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Gene Deletion ◽  
Contiguous Gene

scholarly journals Haploinsufficiency ofALX4as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

2000 ◽  
Vol 67 (5) ◽  
pp. 1327-1332 ◽  
Author(s):  
Yuan‐Qing Wu ◽  
Jose L. Badano ◽  
Christopher McCaskill ◽  
Hannes Vogel ◽  
Lorraine Potocki ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome

scholarly journals A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

2012 ◽  
Vol 91 (4) ◽  
pp. 250-254 ◽  
Author(s):  
Alessandra Pangrazio ◽  
Annalisa Frattini ◽  
Roberto Valli ◽  
Emanuela Maserati ◽  
Lucia Susani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Gene Deletion ◽  
Contiguous Gene ◽  
Chromosome 16P13.3 ◽  
Autosomal Recessive Osteopetrosis

Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3

2018 ◽  
Vol 61 (7) ◽  
pp. 388-392 ◽  
Author(s):  
Jorge La Serna-Infantes ◽  
Miguel Chávez Pastor ◽  
Milana Trubnykova ◽  
Félix Chavesta Velásquez ◽  
Flor Vásquez Sotomayor ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Contiguous Gene ◽  
Type 3

Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome

2018 ◽  
Vol 176 (3) ◽  
pp. 560-569 ◽  
Author(s):  
Bianca Quiñones-Pérez ◽  
Grace E. VanNoy ◽  
Meghan C. Towne ◽  
Yiping Shen ◽  
Michael N. Singh ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Thoracic Aortic Aneurysm ◽  
Gene Deletion ◽  
Contiguous Gene ◽  
Generation Family

scholarly journals Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Mohammad M. Al-Qattan ◽  
Zuhair A. Rahbeeni ◽  
Zuhair N. Al-Hassnan ◽  
Abdulaziz Jarman ◽  
Atif Rafique ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Syndrome Type ◽  
Partial Deletion ◽  
Gene Deletions ◽  
Mild Phenotype ◽  
Contiguous Gene ◽  
Chromosome 16P13.3 ◽  
Contiguous Gene Deletion Syndrome

The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively mild phenotype.

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