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.

التفاصيل البيبلوغرافية
العنوان:	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.
المؤلفون:	Al-Qattan, Mohammad M.^1,2 (AUTHOR), Rahbeeni, Zuhair A.³ (AUTHOR), Al-Hassnan, Zuhair N.³ (AUTHOR), Jarman, Abdulaziz² (AUTHOR), Rafique, Atif² (AUTHOR), Mahabbat, Nehal² (AUTHOR), Alsufayan, Faris A. S.⁴ (AUTHOR)
المصدر:	Case Reports in Genetics. 1/9/2020, p1-6. 6p.
مصطلحات موضوعية:	DELETION mutation, CHROMOSOMES, 22Q11 deletion syndrome, PHENOTYPES, SYNDROMES, GENES
مستخلص:	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. [ABSTRACT FROM AUTHOR]
قاعدة البيانات:	Academic Search Index

الوصف
تدمد:	20906544
DOI:	10.1155/2020/6143050