Newborn with 4 syndromes (Down, Turner, Xp11.22 duplication and 3q duplication) characterized by G-banding, FISH, microarray and optical genome mapping
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Presenting Author - Jie Xu, PhD, CCG, LGG; Co-Author - Catherine A. Brownstein, MPH, PhD; Co-Author - Sarah Ossler, MS, CGC, LGC; Co-Author - Catherine Melver, MD;
Meta Tag
array CGH
Chromosomal Abnormalities
Clinical Applications of Molecular Cytogenetics
Clinical Cytogenetics
Cytogenetics
Dysmorphology
Genotype-Phenotype Correlations
Methodology
Microarray
Molecular Cytogenetics
Co-Author Catherine A. Brownstein, MPH, PhD
Co-Author Sarah Ossler, MS, CGC, LGC
Co-Author Catherine Melver, MD
Presenting Author Jie Xu, PhD, CCG, LGG
Keywords
case study
syndromes
chromosomes
trisomy 21
Xp11.22 duplication syndrome
3q duplication syndrome
genetic testing techniques
intellectual disability
hand and foot abnormalities
comprehensive genetic testing

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