Monosomy for the X chromosome

Mechanism for Autoimmune Diseases X Chromosome Monosomy: A Common

Partial monosomy of chromosome 10 short arms.

Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include ment...

Origin of sex chromosome monosomy in man.

There are striking contrasts when the apparent origin of the 45,X anomaly is compared with most trisomic conditions, and recent work gives interesting clues to the causes of sex-chromosome monosomy. Except for a small proportion of cases arising from secondary non-disjunction of primary trisomic subjects-or cells-and a further group of segregational examples arising from centric fusion heterozy...

X Chromosome Inactivation in Opioid Addicted Women

Introduction: X chromosome inactivation (XCI) is a process during which one of the two X chromosomes in female human is silenced leading to equal gene expression with males who have only one X chromosome. Here we have investigated XCI ratio in females with opioid addiction to see whether XCI skewness in women could be a risk factor for opioid addiction. Methods: 30 adult females meeting DS...

Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.

The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) informat...