Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: New cases and literature review

Keyphrases

• Androgen Receptor 20%
• Array Comparative Genomic Hybridization (aCGH) 20%
• Behavior Problems 40%
• Chromosomal Microarray 20%
• Chromosome Duplication 20%
• CLIC2 20%
• Clinical Characterization 100%
• Clinical Features 20%
• Clinical Phenotype 20%
• Cognitive Impairment 60%
• Comparative Genomic Hybridization Analysis 20%
• Distinctive Facial Features 40%
• Duplicated Region 20%
• Duplication 60%
• Embryonic Lethal 20%
• F8 Gene 20%
• Female Infant 20%
• Fragile X Mental Retardation 1 (FMR1) 20%
• Healthy Women 20%
• Hemizygous 20%
• Hemophilia 20%
• Homologous Regions 100%
• Intron 22 100%
• Male Lethality 20%
• Maternally Inherited 20%
• Mild Cognitive Impairment 20%
• Mild Phenotype 40%
• Non-homologous Recombination 20%
• Normal Cognition 20%
• Oligonucleotides 20%
• Phenotypic Effects 20%
• RAB39B Gene 20%
• VBP1 20%
• X Chromosome Inactivation 80%
• Xq28 Duplication 100%
• Xq28-duplication Syndrome 40%

Biochemistry, Genetics and Molecular Biology

• Androgen Receptor 20%
• Array Comparative Genomic Hybridization 20%
• Haemophilia A 20%
• Homologous Recombination 20%
• Intron 100%
• Oligonucleotide 20%
• X-Inactivation 80%