What type of inheritance is turners syndrome




















Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Turner syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.

Some registries collect contact information while others collect more detailed medical information. Learn more about registries. Organizations Organizations. Organizations Supporting this Disease. InterConnect E-mail: info interconnect.

Turner Syndrome Foundation P. Syndrome tss. Organizations Providing General Support. Do you know of an organization? Living With Living With. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More Learn More. Click on the link to view information on this topic. The Mayo Clinic Web site provides further information on Turner syndrome. MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

MedlinePlus Genetics contains information on Turner syndrome. This website is maintained by the National Library of Medicine. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss Turner syndrome. Click on the link to view a sample search on this topic.

Self-esteem and social adjustment in young women with Turner syndrome--Influence of pubertal management and sexuality: population-based cohort study. J Clin Endocrinol Metab. Submit a new question I underwent an IVF cycle and got pregnant but miscarried at 9 weeks. See answer How can I learn more about learning disabilities in women and girls with Turner syndrome?

See answer My daughter was diagnosed with Turner syndrome at the age of See answer Could someone with a mild case of Turner syndrome have occasional monthly menses? See answer My stepdaughter has Turner syndrome. See answer I have Turner syndrome, and have been getting my period regularly.

See answer Have a question? References References. Turner syndrome. Genetics Home Reference. Learning About Turner Syndrome. Daniel MS. Turner Syndrome. Medscape Reference. Mayo Clinic. Do you know of a review article? Share this content:. Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families.

Tips for Finding Financial Aid. Help with Travel Costs. How to Get Involved in Research. Medical and Science Glossaries. Caring for Your Patient with a Rare Disease. FindZebra Diagnosis Assist Tool. Finding Funding Opportunities. Teaching Resources. Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ]. Delayed bone maturation Delayed skeletal development [ more ].

Elevated gonadotropins Elevated serum gonadotropins Gonadotropin excess [ more ]. Prenatal growth deficiency Prenatal growth retardation [ more ].

The missing genes cause the range of anomalies and symptoms associated with this condition. The direct link between the missing genes and the particular problems is not yet well understood. While some of these correct themselves, others need surgery. They may also develop nerve deafness caused by degeneration in the hearing nerves.

It may be caused by a narrowing coarctation of the aorta a major artery , which can be surgically repaired. Infertility is caused by the failure of the ovaries to grow properly — they then undergo a premature menopause. There may be some eggs present at birth, but these degenerate soon after.

However, many treatment options are available to help affected girls and women reach their potential in all aspects of life. Treatment aims to correct any physical defects and help bring about puberty. Options include: surgery to correct any heart defects growth hormone therapy to increase height hormone replacement therapy to trigger menstruation and the development of secondary sexual characteristics such as breasts regular monitoring to check hormone levels regular follow-up and management of medical conditions treatment for the management of complications such as high blood pressure assisted reproduction.

Usually, a woman has two X chromosomes. The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing the second sex chromosome in all of their cells.

This is also referred to as having monosomy X. This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece has a deletion.

Depending on the specific gene s that are missing, features of Turner syndrome may or may not be present. A deletion may occur sporadically not inherited or it may be inherited from a parent.

Mosaic Turner syndrome when some cells have one X chromosome and some have two sex chromosomes is caused by a random error in early fetal development shortly after conception.

It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.

References References. Turner syndrome. Genetics Home Reference. Mosaic Turner syndrome is also not inherited. In an affected individual, it occurs as a random event during cell division in early fetal development. As a result, some of an affected person's cells have the usual two sex chromosomes, and other cells have only one copy of the X chromosome.

Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism. Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next.

Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Turner syndrome. From Genetics Home Reference. Description Turner syndrome is a chromosomal condition that affects development in females. Frequency This condition occurs in about 1 in 2, newborn girls worldwide, but it is much more common among pregnancies that do not survive to term miscarriages and stillbirths.

Causes Turner syndrome is related to the X chromosome , which is one of the two sex chromosomes. Inheritance Most cases of Turner syndrome are not inherited. Research Studies from ClinicalTrials. References Bondy CA.



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