Neonatal diseases and congenital syndromes
Even in a complex organism like a human actually developed from a single cell of the merger of the two gamete is a known fact for a long time. However, the secrets of the formation of cell biology and molecular genetic studies, but today is a light, a learn. The most striking fact revealed by modern developmental biology of the cell is actually contained in the genome of this process is time and space, and an interpretation of the size of the main genes that control this process (for example, homeobox genes), many things, including human evolution in the organism during the same stay unchanged.
However, the structure and function of a cell should be noted that three main factors that dictate the cell's genetic makeup (genome), contains the functional proteins (proteome) and the cell in the b ar descends environment (niche) is. To give you an example, during embryogenesis, which we often touch a new case for the development of a number of signals from nearby cells (niche) target cells (stem cells), and these signals are perceived by some as a result of new genes to become active within the target cell or susturulmasıdır (genome). Naturally, these functional changes of the genome and functional proteins are synthesized by macro-molecular structures of the cell (proteome) is changing and so is composed of new tissues and organs.
As can be seen in this formation and the integration of the necessary signals to the signals as well as the appropriate response to this grant, and a harmonious working together of many genes can be sergilemesiyle. The formation of the zygote from the genes inherited from each parent and one or more defective genes in the case of any structural or functional mechanisms that disruption of the gene will be starring. This genetic abnormality affecting the cell structure or function of a vital embryogenesis, the pregnancy ends in miscarriage is likely. Should be noted that approximately 30% to 40% of eggs fertilized by normal couples, even settling into the uterus is lost in a secret low. However, that affect the development of the fetus, but a vital dimension zigottaki genetic abnormality is not a case of neonatal (congenital) will come as a disease or congenital syndrome.
Neonatal diseases and congenital syndromes, such as a single gene abnormality may occur due to genetic abnormalities that cause the disease, sometimes even many genes of a chromosome can contain all even. In addition, environmental factors (eg fetal alcohol syndrome, such as lack of folic acid), or the elements, in these cases, there might be a primary factor. In this section, the analysis indicated that genetic diseases and syndromes will be discussed and information about what are the preferred methods of genetic analysis verilecedktir. But that is not included in this section ( Lesch-Nyhan Syndrome , Phenylketonuria Disease , Charcot-Marie-Tooth syndrome , and the like) other neonatal diseases applications of molecular genetic diagnosis of congenital syndromes, and for more information, please scan indexing or direct
I - Neonatal Diseases and Congenital Syndromes in the Genet ic diagnosis :
1) Angelman Syndrome
2) , Cockayne Syndrome
3) Di George's Syndrome, and VCF Syndrome
4) Down Syndrome (and other aneuploidy syndromes)
5) Ellis-van Creveld Syndrome
6) Fragile X Syndrome
7) with Marfan's Syndrome
8) Prader-Willi Syndrome
9) Waardenburg's Syndrome
10) Werner's Syndrome
11) Williams Syndrome
12) Zellweger Syndrome
