A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Keyphrases

• Congenital Heart Disease 100%
• Microduplication 100%
• Coloboma 100%
• Triphalangeal Thumb-polysyndactyly Syndrome 100%
• Proband 20%
• Duplication 20%
• Microphthalmia 20%
• Ocular Pathology 20%
• Non-associated 10%
• Disease Pathology 10%
• Whole Exome Sequencing 10%
• Pathogenic mutations 10%
• Family Members 10%
• Clinical Analysis 10%
• Thumb 10%
• Pathogenic Variants 10%
• Array Comparative Genomic Hybridization (aCGH) 10%
• Sonic Hedgehog 10%
• Large Families 10%
• Sequence Data 10%
• Variants of Uncertain Significance 10%
• Well-defined 10%
• Cardiac Defects 10%
• Genomic Analysis 10%
• OR Genes 10%
• Pedigree Analysis 10%
• Functional Studies 10%
• Regulatory Sequence 10%
• Single nucleotide Variant 10%
• Genotype-phenotype 10%
• Cardiovascular Abnormalities 10%
• Epigenetic Factors 10%
• Complex Patients 10%
• Cardiac Genes 10%
• Autosomal Dominant Disorder 10%
• Phalanx 10%
• GPR37 10%
• Syndactyly 10%
• Double Outlet Right Ventricle 10%
• Postaxial Polydactyly 10%
• Preaxial Polydactyly 10%
• Ethnic Background 10%
• Intrafamilial Variability 10%
• Severe Congenital Heart Disease 10%
• Eye Malformations 10%
• Cardiac Malformation 10%
• Anophthalmia 10%
• Inter-variability 10%
• LMBR1 10%
• Ocular Malformation 10%
• Complete Duplication 10%
• Limb Pathologies 10%
• High-resolution Arrays 10%
• Additional Malformations 10%

Biochemistry, Genetics and Molecular Biology

• Proband 100%
• Epigenetics 50%
• Single-Nucleotide Polymorphism 50%
• Genetics 50%
• Exome Sequencing 50%
• Autosomal Dominant Inheritance 50%
• Regulatory Sequence 50%
• Intron 50%
• Comparative Genomic Hybridization 50%
• Sonic Hedgehog 50%
• Pedigree Analysis 50%
• Genomics 50%

Medicine and Dentistry

• Optic Disc 100%
• Persistent Truncus Arteriosus 100%
• Coloboma 100%
• Triphalangeal Thumb 100%
• Limb 30%
• Microphthalmia 20%
• Eye Malformation 20%
• Single Nucleotide Polymorphism 10%
• Thumb 10%
• Congenital Malformation 10%
• Clinical Significance 10%
• Exome Sequencing 10%
• Sonic Hedgehog Protein 10%
• Intron 10%
• Case Presentation 10%
• Autosomal Dominant Disorder 10%
• Phalanx 10%
• Comparative Genomic Hybridization 10%
• Syndactyly 10%
• Cardiovascular Malformation 10%
• Polydactyly 10%
• Double Outlet Right Ventricle 10%
• Anophthalmia 10%
• Pedigree Analysis 10%
• Regulatory Sequence 10%