Mosaic partial trisomy 17q2.

Edwards' Syndrome (Trisomy 18)

The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a...

Edwards' Syndrome (Trisomy 18)

The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a...

A female with XO/XY mosaicism and partial trisomy 9p.

Sonographic Findings in Partial Type of Trisomy 18

Mosaic Trisomy 9 in a Male Fetus with Severe Facial Abnormality and Genital Hypoplasia

Fetal trisomy 9 is a rare chromosomal abnormality, which was difficult to diagnose in the prenatal period. Here is reported a case of mosaic trisomy 9 fetus, prenatally detected by ultrasound examinations in the second trimester and confirmed by karyotyping from amniocentesis and cordocentesis. The fetus presented multiple malformations, especially facial deformity, polycystic kidney disease an...