Thomas Liehr: 3 books
Small Supernumerary Marker Chromosomes (sSMC)
A Guide for Human Geneticists and Clinicians
Language: English
Release Date: November 3, 2011
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This...
Benign and Pathological Chromosomal Imbalances
Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling
Language: English
Release Date: August 31, 2013
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human...
Uniparental Disomy (UPD) in Clinical Genetics
A Guide for Clinicians and Patients
Language: English
Release Date: June 26, 2014
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in...