Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndrome

Keyphrases

• Monosomy 100%
• Partial Trisomy 100%
• High-resolution 50%
• Clinical Phenotype 50%
• Chromosome 1 50%
• Intellectual Disability 50%
• Hearing Impairment 50%
• Clinical Diagnosis 50%
• Fluorescence in Situ Hybridization 50%
• G-band 50%
• Unbalanced Translocation 50%
• DNA Probe 50%
• Genomic Imbalances 50%
• Microcephaly 50%
• Repetitive Sequences 50%
• Band Analysis 50%
• Forehead 50%
• Chromosome Abnormalities 50%
• Skeletal Deformities 50%
• 1p36 50%
• Depressed Nasal Bridge 50%
• Prognathism 50%
• Abusive Behavior 50%
• Karyotype Abnormalities 50%
• Optic Atrophy 1 (OPA1) 50%
• Abnormal Ears 50%
• Small Region 50%
• Brain Anomalies 50%
• Additional Findings 50%
• Deep Sets 50%

Medicine and Dentistry

• Monosomy 100%
• Partial Monosomy 100%
• Chromosome 100%
• Hearing Impairment 50%
• Chromosome Aberration 50%
• Fluorescence in Situ Hybridization 50%
• Chromosome 1 50%
• Microcephaly 50%
• Optic Nerve Atrophy 50%
• Skeleton Malformation 50%
• Prognathism 50%
• Brain Malformation 50%
• Genetics 50%

Biochemistry, Genetics and Molecular Biology

• Monosomy 100%
• Chromosome 100%
• Chromosome 1 33%
• Fluorescence in Situ Hybridization 33%
• DNA Probe 33%
• Chromosome Abnormality 33%
• Genetic Imbalance 33%
• Optics 33%
• Hearing 33%