Trisomy 13 syndrome is a rare disorder that carries a high mortality rate due to abnormal prenatal development resulting in serious birth defects. Although genitourinary malformations are commonly seen in trisomy 13 syndrome, to our knowledge, the association of cloacal exstrophy with trisomy 13 has been extremely rarely reported. Herein, a newborn with trisomy 13 syndrome having multiple conge...

this case report presents a coincidence of trisomy 18 and balanced robertsonian translocation (13;14). aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. in a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported iugr (<3rd percentile) with normal amniotic fluid, bilateral choroid plexus cysts, ...

OBJECTIVE To investigate the performance of nuchal fold thickness, nasal bone hypoplasia, reversed flow in the ductus venosus and tricuspid valve regurgitation in the prediction of fetal aneuploidies in the early second trimester. METHODS This was a prospective study of 870 fetuses at 14 + 0 to 17 + 6 weeks of gestation, performed from 2005 to 2007. In all cases we assessed classical structur...

OBJECTIVES To investigate the potential value of maternal serum placental growth factor (PlGF) in first-trimester screening for trisomy 21 and other major chromosomal abnormalities. METHODS The maternal serum concentration of PlGF at 11 + 0 to 13 + 6 weeks was measured in 609 euploid and 175 chromosomally abnormal pregnancies, including 90 with trisomy 21, 28 with trisomy 18, 19 with trisomy ...

OBJECTIVE To examine the possible association between aneuploidies and fetal lateral cerebral ventriculomegaly in the first trimester of pregnancy. METHODS Three-dimensional brain volumes were acquired by transvaginal ultrasound examination at 11-13 weeks' gestation in 410 euploid fetuses and 63 fetuses with trisomy 21, 34 with trisomy 18 and seven with trisomy 13. Lateral ventricles were ass...

OBJECTIVE.Our goal was to determine whether the third ventricle is significantly enlarged among neonates with trisomy 21, compared with infants without clinical signs of trisomy 21. This enlargement might be related to hypoplasia of the structures surrounding the third ventricle. These structures participate in cognitive development, and hypoplasia in this area may be responsible for some of th...

Increased apoptosis of hematopoietic progenitor cells has been implicated in the pathophysiology of cytopenias associated with myelodysplastic syndromes (MDSs), and inhibition by immunosuppression may account for the success of this treatment in some patients. We examined bone marrow and peripheral blood of 25 patients with chromosomal abnormalities associated with MDS (monosomy 7, trisomy 8, a...

Of 52 AML-M0 patients studied, 16 presented a RUNX1 mutation (30.8 %) and 8 carried a trisomy 13 (15 %). We found a strong correlation between trisomy 13 and RUNX1 mutations, i.e, 7 out of 8 cases with trisomy 13 carried a mutation in RUNX1 (87.5 %, p<0.00056). Trisomy 13 patients with a RUNX1 mutation showed a 4-fold higher expression of FLT3 mRNA compared to controls, and in a selected number...

BACKGROUND AND OBJECTIVES Trisomy 12 is one of the most common chromosomal abnormalities in B-cell chronic lymphocytic leukemia (CLL). The aberration is readily detected by fluorescence in situ hybridization (FISH). There are only a few reports in which FISH analyses have been used to study the expansion of the trisomy 12 clone over time. DESIGN AND METHODS Repeat FISH analyses were performed...