trisomic

The developed data analysis method uses high-coverage sequencing data from targeted genomic regions to detect fetal trisomies and the parental origin of the trisomic chromosome from the mother's blood sample in the first trimester of pregnancy.

The peak pattern shown in Figure 1 is an example of a sample that is in the trisomic range for Down syndrome.

In addition, 2 markers located on the short arm of chromosome 18 (GATA178F11 and D18S391; locations: 18p11.32 and 18p11.31, respectively) showed trisomic patterns.

Amniotic fluid biochemistry in second-trimester trisomic pregnancies relationships to fetal organ maturation and dysfunction.

Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature.

The expected value for a normal and trisomic sample are 0.9 to 1.1 and 1.4 to 1.6, respectively.

Geraedts, "Comparison of histological features in early spontaneous and induced trisomic abortions," Placenta, vol.

No additional adverse phenotypic effect appeared besides causing reproductive failure with possible monosomic or trisomic conceptions for chromosome 22 (39, 42, 43).

These shortcomings include: (1) incompleteness of the set of chromosome 21 orthologous genes triplicated in the Ts65Dn marker chromosome and (2) unspecificities in the set of genes contained in the Ts65Dn trisomic segment.

Molecular studies demonstrated that the ring included a duplicated region with a concomitant distal deletion suggesting the following mechanism: an initial Robertsonian translocation occurred between one paternal and one maternal chromosome in a trisomic cell, followed by distal breakage and deletion in both long arms of the translocation, leading to the formation of a ring chromosome.

In fact, DSCAM trisomy was found in a human DS patient with no signs of AD-like neuropathology (23), suggesting that DSCAM overexpression alone may lead to cognitive deficits, but additional studies are necessary since this patient was also trisomic for other genes on chromosome 21.