Trisomy 20p

Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.

Ventricular septal defect

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.


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PMID (PMCID)
21199750
 FEMALE Adult
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings.
Chen CP, Chen M, Su YN, Hsu CY, Tsai FJ, Chern SR, Wu PC, Lee CC, Wang W.
Taiwan J Obstet Gynecol. 2010;49(4):473-80.
Partial monosomy 1p (1p36.238594pter) and partial trisomy 20p (20p12.18594pter) are associated with ventriculomegaly, ventricular septal defect and midface hypoplasia on prenatal ultrasound.
21199750
 FEMALE Adult
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings.
Chen CP, Chen M, Su YN, Hsu CY, Tsai FJ, Chern SR, Wu PC, Lee CC, Wang W.
Taiwan J Obstet Gynecol. 2010;49(4):473-80.
To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 1p (1p36.238594pter) and partial trisomy 20p (20p12.18594pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia.