Dear Parents, As you may know I am your genetic counselor, and before I began, allow me to go over some basics

of DNA and genetics. First of all chromosomes, Chromosomes are organized structures of DNA and proteins that are found in cells. Chromosomes vary extensively between different organisms. Human cells have 23 pairs of large linear nuclear chromosomes, giving a total of 46 per cell. Now you may ask yourself what DNA is, and what it does? Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms. The main role of DNA molecules is the long-term storage of information. DNA is often compared to a set of blueprints, since it contains the instructions needed to construct other components of cells, such as proteins and RNA molecules. The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in regulating the use of this genetic information. The set of chromosomes in a cell makes up its genome; the human genome has approximately 3 billion base pairs of DNA arranged into 46 chromosomes. The information carried by DNA is held in the sequence of pieces of DNA called genes. Transmission of genetic information in genes is achieved via complementary base pairing . All the functions of DNA depend on interactions with proteins. These protein interactions can be non-specific, or the protein can bind specifically to a single DNA sequence. Enzymes can also bind to DNA and of these, the polymerases that copy the DNA base sequence in transcription and DNA replication are particularly important. Within chromosomes, DNA is held in complexes with structural proteins. These proteins organize the DNA into a

compact structure called chromatin. Proteins are vital to DNA, without them mutations within the genetic code of the DNA might occur and the resulting child may be damaged with any number of various disorders. DNA can be damaged by many different sorts of mutagens, which are agents that change the DNA sequence. In biology, mutations are changes to the base pair sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or viruses, or can occur deliberately under cellular control during processes such as hypermutation. Changes in DNA caused by mutation can cause errors in protein sequence, creating partially or completely non-functional proteins. To function correctly, each cell depends on thousands of proteins to function in the right places at the right times. When a mutation alters a protein that plays a critical role in the body, a medical condition can result. A condition caused by mutations in one or more genes is called a genetic disorder. However, only a small percentage of mutations cause genetic disorders; most have no impact on health. For example, some mutations alter a gene's DNA base sequence but don’t change the function of the protein made by the gene. If a mutation is present in a germ cell, it can give rise to offspring that carries the mutation in all of its cells. This is the case in hereditary diseases. On the other hand, a mutation can occur in a somatic cell of an organism. Such mutations will be present in all descendants of this cell, and certain mutations can cause the cell to become malignant, and thus cause cancer. A karyotype is the characteristic chromosome complement of a eukaryote species, such as humans. The preparation and study of karyotypes is part of cytogenetics. Karyotypes can be

used for many purposes. They may be used to study chromosomal aberrations, to study cellular function, to study taxonomic relationships, or to gather information about past evolutionary events. Six different characteristics of karyotypes are usually observed and compared: 1. Differences in absolute sizes of chromosomes. This feature probably reflects different amounts of DNA duplication. 2. Differences in the position of centromeres. This is brought about by translocations. 3. Differences in relative size of chromosomes can only be caused by segmental interchange of unequal lengths. 4. Differences in basic number of chromosomes may occur due to successive unequal translocations which finally remove all the essential genetic material from a chromosome, permitting its loss without penalty to the organism. 5. Differences in number and position of satellites, which are small bodies attached to a chromosome by a thin thread. 6. Differences in degree and distribution of heterochromatic regions. Heterochromatin stains darker than euchromatin, indicating tighter packing, and mainly consists of genetically inactive repetitive DNA sequences. After looking at your child's karyotype it has become apparent that the third of this list has appeared in your child's DNA. It has progressed far enough that the standard protein-regulated DNA fixing process is uneffective given the rapid replication of your child's cells. To be more specific he has inherited a disorder

known as Cri-Du-Chat, or cry of the cat, named so after the distinctice cry of children born with the disorder, which is due to the short, trucated arm of chromosome number five. It is likely that the child will die either before term, or soon after it, and if not he will probaly need assited breathing for the rest of his life. Like I said before, any decendants from this child, would also have a high chance of the disorder as well. I would ask that you come to my office as soon as possible so that we might review any options or choices you have when it comes to the future of this child.