children

Medical Genetics is committed to providing you, your newborn, children, or adolescents with excellent care in diagnosis, management and treatment of all forms of hereditary disorders and birth defects. Our staff includes many specialists from clinical geneticists, counselors to neurologists that work as a team to develop your child’s treatment plan.

Services:

  • Metabolic Clinic
  • Lysosomal storage disorders clinic
  • Fetal Alcohol Syndrome
  • Newborn Screening Counseling & Education
  • Pediatric General Evaluation
    • Disorders of growth
    • Neurocognitive impairment including autism
    • Birth defects
    • Distinctive facial features
    • Hearing impairment (in conjunction with Otolaryngology)

Specific Expertise in:

  • Neurofibromatosis (NF-1 & NF-2)
  • Prader-Willi Syndrome
  • Marfan Syndrome
  • Down Syndrome
  • Chromosome 22q11
  • Deletion Syndrome
  • Turner Syndrome
  • Chromosome Abnormalities

Types of Genetic Diseases

There are several types of genetic disorders. The way in which the disorder is inherited can help determine the risks it will have on a pregnancy and the risk of recurrence it will recur in future children. Risks for having a baby with a birth defect from a genetic abnormality may be increased when:

  • The parents have another child with a genetic disorder.

  • There is a family history of a genetic disorder.

  • One parent has a chromosomal abnormality.

  • The fetus has abnormalities seen on ultrasound.

What are the types of genetic disease?

The following are the different types of genetic diseases:

  • Chromosomal abnormalities

  • Single gene defects

  • Multifactorial problems

  • Teratogenic problems

What are chromosomal abnormalities?

Chromosomal abnormalities in the baby may be inherited from the parent or may occur with no family history. The following chromosomal problems are the most common:

  • Aneuploidy. More or fewer chromosomes than the normal number, including:

    • Down syndrome (trisomy 21). Cells contain three #21 chromosomes.

    • Turner syndrome. One of the two sex chromosomes is not transferred, leaving a single X chromosome, or 45 total.

  • Deletion. Part of a chromosome is missing, or part of the DNA code is missing.

  • Inversion. When a chromosome breaks and the piece of the chromosome turns upside down and reattaches itself. Inversions may or may not cause birth defects depending on their exact structure.

  • Translocation. A rearrangement of a chromosome segment from one location to another, either within the same chromosome or to another.

    • Balanced translocation. The DNA is equally exchanged between chromosomes, and none is lost or added. A parent with a balanced translocation is healthy, but he or she may be at risk for passing unbalanced chromosomes in a pregnancy.

    • Robertsonian translocation. A balanced translocation in which one chromosome joins the end of another.

  • Mosaicism. The presence of two or more chromosome patterns in the cells of a person, resulting in two or more cell lines (for example, some with 46 chromosomes, others with 47).

What are single gene disorders?

These are also known as Mendelian inheritance disorders, from the first genetic work of Gregor Mendel. In these disorders, a single gene is responsible for a defect or abnormality. Single gene disorders usually have greater risks of inheritance. Single gene disorders can be:

  • Dominant. An abnormality occurs when only one of the genes from one parent is abnormal. If the parent has the disorder, the baby has a 50 percent chance of inheriting it. Examples include the following:

    • Achondroplasia. Imperfect bone development causing dwarfism.

    • Marfan syndrome. A connective tissue disorder causing long limbs and heart defects.

  • Recessive. An abnormality only occurs when both parents have abnormal genes. If both parents are carriers, a baby has a 25 percent chance of having the disorder. Examples include the following:

    • Cystic fibrosis. A disorder of the glands causing excess mucus in the lungs and problems with pancreas function and food absorption.

    • Sickle cell disease. A condition causing abnormal red blood cells.

    • Tay-Sachs disease. An inherited autosomal recessive condition that causes a progressive degeneration of the central nervous system, which is fatal (usually by age 5).

  • X-linked. The disorder is determined by genes on the X chromosome. Males are mainly affected and have the disorder. Daughters of men with the disorder are carriers of the trait and have a one in two chance of passing it to their children. Sons of women who are carriers each have a one in two chance of having the disorder. Examples include the following:

    • Duchenne muscular dystrophy. A disease of muscle wasting.

    • Hemophilia. A bleeding disorder caused by low levels, or absence of, a blood protein that is essential for clotting.

What are multifactorial problems?

Some birth defects do not follow a single gene or chromosomal abnormality pattern. They may be due to several problems, or a combined effect of genes and the environment. It is difficult to predict inheritance of abnormalities caused by multiple factors. Examples include heart defects, cleft lip or cleft palate, and neural tube defects (defects in the spine or brain).

What are teratogenic problems?

Certain substances are known to cause abnormalities in babies. Many birth defects occur when the fetus is exposed to teratogens (substances that cause abnormalities) during the first trimester of pregnancy when organs are forming. Some known teratogens include the following:

  • Certain medications (always consult your doctor before taking any medications during pregnancy)

  • Alcohol

  • High level of radiation exposure

  • Lead

  • Certain infections (such as rubella)

How are genetic problems diagnosed?

Families at risk for genetic diseases may want to consult a certified genetic counselor. A careful family pedigree (chart of members of the family) and history may help determine risks for certain problems. Genetic counseling also helps parents understand the effects of a disorder and ways it may be prevented or treated.

It may be necessary to check each parent's DNA to learn about some genetic inheritance patterns. Prenatal testing is also available to check the fetus for problems. Testing may include ultrasound (using sound waves to look at internal structures), chorionic villus sampling (testing the tissues around the fetus), or amniocentesis (withdrawing a sample of the amniotic fluid).

Health History and Genetic Testing

To evaluate your child for birth defects, healthcare providers look at your child’s newborn screening test results. They also look at your prenatal history, the child’s health history, and the results of any of the child’s genetic testing. Below are common tests.

Prenatal history

Certain things that happen during your pregnancy can affect how your baby develops. The healthcare provider will look at:

  • Your family health history

  • Results of any prenatal testing

  • Your personal health history

  • Any medicines you used during the pregnancy

  • Histories of past pregnancies

Newborn baby checkups

All babies are carefully checked at birth for signs of problems. The doctor does a complete physical exam that includes every body system. Throughout the hospital stay, doctors, nurses, and other healthcare providers continually check a baby. They are looking for changes in health and signs of problems or illness. For example, they may look at the baby’s birthweight, measurements, and hearing screening results.

Child health history

Children are checked for their development milestones. This will help figure out if their development up to this point in time has been normal. Each age has certain abilities and behaviors tied to it. The healthcare provider will look at a number of things, such as your child’s rate of growth and speech development.

You may also have noted to the healthcare provider that the child being evaluated for a birth defect may seem different from your other children. For example, one child walked and talked later than the other.

Genetic testing

Genetic testing finds changes in chromosomes, genes, or proteins. Results of these tests are important when looking at a child for birth defects and their causes.

Douglas J. Ball, M.D.

Dr. Ball is a clinical geneticist who sees patients of all ages with known or suspected genetic conditions. He has a special interest providing care to patients of all ages with Ehlers-Danlos Syndrome and other connective tissue and vascular diseases, and in providing diagnosis and treatment to adult patients with genetic conditions.  Dr. Ball prov... Read More

Bonnie J. Baty, M.S., CGC

Professor Baty established genetic counseling services at the University of Utah and has practiced as a genetic counselor for over 3 decades. Her research interests include genetic counseling education and practice and natural history of genetic conditions. She directs the Graduate Program in Genetic Counseling. She received Natalie Weissberger Pau... Read More

Lorenzo D. Botto, M.D.

Lorenzo Botto, MD, is a professor of Pediatrics at the University of Utah School of Medicine. He trained in Europe and the United States in Pediatrics, Pediatric Cardiology, and Medical Genetics, with further subspecialty training in Biochemical Genetics. He trained in and practiced epidemiology and public health at the US Centers for Disease Contr... Read More

John C. Carey, M.D., M.P.H.

John C. Carey, MD, MPH, is Professor and Vice Chair of Academic Affairs, Department of Pediatrics, at the University of Utah. Throughout his career, Dr. Carey has been interested in birth defect syndromes and the care of children with these conditions. Dr. Carey graduated from Villanova University in 1968 with an A.B. and obtained his M.D. from G... Read More

Specialties:

Medical Genetics, Pediatric Genetics

Locations:

Eccles Primary Children’s Outpatient Services Building (801) 213-3599
PCH Outpatient Services at Riverton (801) 213-3599

Synneva J. Hagen-Lillevik, R.D.

Synneva Hagen-Lillevik, MS, RDN is a Registered Dietitian with the Metabolic Clinic who provides dietary intervention, education, dietary counseling, and support for families of patients with inherited disorders of metabolism.  She has special interest in biochemical pathways, epigenetics, and the role of nutritional intervention in treatment.    S... Read More

Julie R. Korenberg, M.D., Ph.D.

Dr. Korenberg, PhD, MD, received her PhD in Genetics followed by her post-doctoral fellowship in electron microscopy of human chromosomes (University of Wisconsin) and then her medical degree from the University of Miami School of Medicine Ph.D. - M.D. Program. She went on to complete her Pediatric residency at Children's Hospital Medical Center (... Read More

Nicola Longo, M.D., Ph.D.

Nicola Longo MD PhD is a professor of Pediatrics and adjunct professor of Pathology at the University of Utah School of Medicine. Born and educated in Italy, Dr. Longo earned his M.D. and Ph.D. in Molecular Biology at the University of Parma School of Medicine. He received residency and fellowship training in pediatrics, medical genetics, and clini... Read More

Janice C. Palumbos, M.S.

Janice Palumbos received her masters degree in Genetic Counseling from the University of California, Irvine in 1983. She did her undergraduate degree at Cornell University. She has been a genetic counselor in the Division of Medical Genetics since 1983. Janice is board-certified by the American Board of Medical Genetics (1984) and the American Boa... Read More

Maria Ralph, R.D.

Maria Ralph, MS, RD is a Registered Dietitian for the University of Utah Metabolic Clinic within the Division of Pediatric Genetics. She provides medical nutrition therapy for patients with inborn errors of metabolism along with counseling and education to optimize health and quality of life.She earned a BS in Nutritional Sciences from the Universi... Read More

Hunter R. Underhill, M.D., Ph.D.

Dr. Underhill graduated with a B.S. in Mathematics from Wake Forest University in Winston-Salem, North Carolina, then he obtained an M.D. from Wake Forest University School of Medicine. After an interesting diversion that included a General Surgery internship and two-years of Neurological Surgery residency training at the University of Washington i... Read More

Krista Viau, R.D.

Krista Viau, PhD, RDN, CSP provides comprehensive nutrition therapy for patients with inborn errors of metabolism through direct patient counseling and education, program development, advocacy, and research. Dr. Viau utilizes ongoing laboratory data, food records, and growth patterns as the basis for determining dietary recommendations. She also ... Read More

Specialties:

Clinical Nutritionist/Dietitian, Pediatric Genetics

Locations:

Eccles Primary Children’s Outpatient Services Building (801) 213-3599
PCH Outpatient Services at Riverton (801) 213-3599

David H. Viskochil, M.D., Ph.D.

David Viskochil, MD, PhD, is professor of pediatrics and one of the clinical geneticists in the Division of Medical Genetics. He received his bachelor’s degree in biology from the University of Arizona, and his doctorate in biochemistry and medical degree from the University of North Carolina 1985. He completed his pediatric residency and clinical ... Read More

Specialties:

Medical Genetics, Pediatric Genetics

Locations:

Eccles Primary Children’s Outpatient Services Building (801) 213-3599
PCH Outpatient Services at Riverton (801) 213-3599
Utah Department of Health
Children with Special Health Care Needs
(801) 213-3599

Ashley Vollenweider, APRN

Ashley Vollenweider is a Pediatric Nurse Practitioner, board certified by the Pediatric Nursing Certification Board. She started her academic career with a BS in health sciences from California State University Fullerton. She then received a second BSN in nursing and a Master of Science in Nursing from the Pediatric Nurse Practitioner Program at ... Read More

Eccles Primary Children's Outpatient Services 81 N. Mario Capecchi Dr.
Salt Lake City, UT 84113
Map
(801) 213-3599
PCH Outpatient Services at Riverton 3773 W. 12600 S.
Riverton, UT 84065
Map
(801) 213-3599
University Hospital 50 N. Medical Drive
Salt Lake City, UT 84132
Map
(801) 213-3599
Utah Department of Health
Children with Special Health Care Needs
44 N. Medical Drive
Salt Lake City, UT  84114
(801) 213-3599