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.