Recent Activity. We addressed the following novel issues:. I have read this submission. Study 2—Quantitative analysis of factors affecting disclosure Common themes emerged from our qualitative exercise and are consistent with other recent work on disclosure in sex chromosomal aneuploidies, 26 but group discussions can ultimately mask honest opinions.
Making synapses: a balancing act. To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation.
A recent study has shown that spermatozoa with aneuploidy of a sex chromosome can be longer-lived than spermatozoa with autosome aneuploidy [ 18 ]. S3 Table Case Exclusion Criteria. Zneimer 2 Natera Inc. Each eukaryotic species has its nuclear genome divided among a number of chromosomes that is characteristic of that species.
Single-nucleotide polymorphism—based noninvasive prenatal screening in a high-risk and low-risk cohort. Ann Hum Genet ; 43 — Most autosomal aneuploidy is maternal in origin. Nielsen J, Wohlert M.
However, paradoxically X chromosome aneuploidy is rarely seen in the dividing cells of bone marrow of females. Skip to main content. In some instances of Turner syndrome, there is slight mental retardation. While early functional studies of the CNTNAP2 protein indicated that it localises to nodes of Ranvier in axonal membranes, it is now recognised to have key functions at the synapse Zweier et al.