DNA Direct: Your Genes in Context

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Testing for Genetic Disorders

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INFERTILITY

Common Chromosome Disorders

There are a variety of chromosome disorders: some can cause infertility in men and women and others can contribute to recurrent pregnancy loss. Some of the most common problems uncovered by chromosome analysis are:

Klinefelter Syndrome
Turner Syndrome
Translocations

Klinefelter Syndrome

Klinefelter syndrome occurs when men inherit an extra X chromosome (giving them 2 X and one Y chromosome rather than a single X and Y) and is the most common genetic cause of azoospermia (a lack of sperm in the semen). This syndrome is often abbreviated as 47,XXY. The image below shows a karyotype for a person with Klinefelter syndrome.

About 1 in 1000 men are born with XXY chromosomes. Men with XXY can appear quite normal or can develop different symptoms of varying severity, such as small testes, enlarged breasts, lack of body hair, and mild retardation. In rare cases, a man will have more extra copies of the X chromosome, making him XXXY or even XXXXY.

Most men with Klinefelter syndrome lack sperm, but there are cases where XXY men have fathered children. In addition, researchers have been able to find sperm in the epididymis of men with Klinefelter syndrome, opening the door to assisted reproduction using intracytoplasmic sperm injection (ICSI) in vitro fertilization.

Other options for men with Klinefelter-syndrome–related infertility include using donor sperm and adopting children.

Turner Syndrome

Most cases of Turner syndrome occur when a women is missing an X chromosome, meaning that she has 45 instead of 46 total chromosomes. Because of the chromosome arrangement, Turner syndrome is sometimes also called 45,X. The image below shows a karyotype for a person with Turner syndrome.

Women with Turner syndrome have ovaries that don't develop properly, resulting in infertility. Turner syndrome usually causes health problems and obvious physical symptoms, such as short stature and a webbed neck, but rarely the condition goes undetected until a woman experiences infertility and has chromosome analysis. In these cases, the woman may have two cells lines: one with both X chromosomes and one with a single X. Or, she may just be missing a portion of the genetic material on one of her X chromosomes.

Depending on the chromosome change that is causing Turner syndrome, a couple can opt to use an egg donor, or may be able to consider treatment such as IVF.

Translocations

Balanced translocations are present in 2 to 5 percent of couples who experience recurrent pregnancy loss. Translocations are rearrangements that occur when chromosomes swap genetic material during cell division. "Balanced" translocations are rearrangements in which no genetic information was lost or gained, but that the genetic information is no longer in the correct location.

The altered chromosome can come from either the mother or the father, who usually have no symptoms themselves. Many times a translocation may have occurred several generations in the past, and may only now be identified through genetic testing. This type of translocation is called a familial translocation.

However, chromosome translocations may also arise for the first time in an individual egg or sperm cell, due to the unique way the chromosomes wrap around one another during cell division. This type of translocation is called a de novo translocation.

If a man or woman is found to carry a translocation that causes miscarriages, the couple may decide to keep trying for a pregnancy on their own, to use donor eggs or sperm, to consider IVF with preimplantation genetic diagnosis (PGD), to adopt, or to live child-free.