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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Newborn with 4 syndromes (Down, Turner, Xp11.22 du ...
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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This poster presents a case study of a newborn with multiple syndromes, including Down syndrome, Turner syndrome, Xp11.22 duplication syndrome, and 3q duplication syndrome. The newborn has various clinical features such as complete AV canal, hemolytic disease of the newborn, thrombocytopenia, abnormal hearing screen, and trisomy 21 characteristics. <br /><br />Genetic testing techniques including G-banding, fluorescence in situ hybridization (FISH), microarray, and optical genome mapping were performed to analyze the baby's chromosomes. Results showed a mosaic female karyotype with trisomy 21 present in all cells, X chromosome add(X)(p11.2) in some cells, and monosomy X in others. Microarray analysis revealed four abnormalities: a duplication of 21q associated with Down syndrome, a deletion of distal Xp including the SHOX gene associated with Turner syndrome, a duplication of proximal Xp including the HUWE1 gene associated with Xp11.22 duplication syndrome, and a duplication of distal 3q associated with 3q duplication syndrome. These abnormalities were all determined to be de novo based on normal parental findings.<br /><br />Telomere FISH and G-banding confirmed the presence of a balanced translocation between the X and 3 chromosomes, resulting in the deletion of distal Xp and duplication of distal 3q. The clinical manifestations of Xp11.22 duplication syndrome include intellectual disability, speech delay, dysmorphic features, early puberty, constipation, and hand and foot abnormalities. 3q duplication syndrome may present with facial dysmorphism, hirsutism, microcephaly, intellectual disability, growth retardation, genitourinary anomalies, hand and foot abnormalities, and renal and congenital heart defects. Optical genome mapping further confirmed the identified anomalies and provided molecular breakpoints.<br /><br />Overall, this case is unique as it represents the first reported case with cytogenomic anomalies indicative of all four syndromes. The findings highlight the importance of comprehensive genetic testing to properly diagnose and manage patients with multiple genetic abnormalities.
Asset Subtitle
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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