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

Medical Genetics: Types of Genetic Changes

The human body has 20,000 to 25,000 different genes. Genes are located on chromosomes, which are stick-shaped structures in the middle of each cell in the body. Each cell usually has 46 chromosomes grouped in 23 pairs. Each gene has a specific function. And when a gene or chromosome is abnormal, it may cause health problems in the body.

There are 2 main types of genetic changes:                                              

  • Chromosome abnormalities

  • Single-gene defects

What are chromosome abnormalities?

Chromosome abnormalities in the baby may be inherited from the parent or may occur with no family history. These are the most common:

Aneuploidy

This means more or fewer chromosomes than the normal number. Examples include:

  • Down syndrome (trisomy 21). Cells contain 3 copies of the 21st chromosome.

  • Turner syndrome. One of the two sex chromosomes is not transferred. This leaves a single X chromosome for 45 total chromosomes instead of 46.

Deletion

This is when part of a chromosome is missing, or part of the DNA code is missing.

Inversion

This is when a chromosome breaks and the piece of it turns around and reattaches itself. Inversions can be passed down in families, but they may or may not cause birth defects.

Ring

A ring chromosome is one where the ends are attached to itself to form a ring. Rings can be passed down in families. They may or may not cause health problems.

Translocation

This is when a chromosome segment rearranges from one location to another. It can happen either within the same chromosome or move to another chromosome. There are two types:

  • Balanced translocation. This is when the DNA is equally exchanged between chromosomes. No DNA is lost or added. A parent with a balanced translocation is healthy, but he or she may be at risk for passing on unbalanced chromosomes to a child.

  • Robertsonian translocation. This is a balanced translocation in which one chromosome joins the end of another.

Mosaicism

This is when a person has 2 or more sets of chromosomes in his or her cells with different genetic material.

What are single-gene changes?

A change in a single gene causes a defect or abnormality. Single-gene changes usually have a higher risk of being passed on to children. Single-gene changes can be:

Dominant

This means the abnormality occurs when only one of the genes from one parent is abnormal. If the parent has the disorder, the baby has a 1 in 2 chance of inheriting it. Examples include:

  • Achondroplasia. This is a bone development disorder that causes dwarfism.

  • Marfan syndrome. This is a connective tissue disorder that causes long limbs and heart defects.

Recessive

This means the abnormality only occurs when both parents have abnormal genes. If both parents are carriers, a baby has a 1 in 4 chance of having the disorder. Examples include:

  • Cystic fibrosis. This is a disorder of glands that causes excess mucus in the lungs. It also causes problems with how the pancreas works and with how food is absorbed.

  • Sickle cell disease. This condition causes abnormal red blood cells that don’t carry oxygen normally.

  • Tay-Sachs disease. This is an inherited autosomal recessive condition that causes the central nervous system to decline. The condition 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 1 in 2 chance of passing it to their children. Sons of women who are carriers each have a 1 in 2 chance of having the disorder. Examples include:

  • Duchenne muscular dystrophy. This is a disease that causes muscle wasting.

  • Hemophilia. This is a bleeding disorder caused by low levels or lack of a blood protein that is needed for clotting.

How genetic changes are passed along in a family

The way a gene is inherited can help determine the risk of it in a current or future pregnancy. The risk of having a baby with a birth defect from a genetic change increases if:

  • The parents have another child with a genetic disorder.

  • There is a family history of a genetic disorder.

  • One parent has a chromosome abnormality.

  • The baby in the womb has abnormalities seen on an ultrasound.

Families at risk for genetic diseases may want to talk with a certified genetic counselor. Making a chart of members of the family and their health histories can help show risks for certain problems. Genetic counseling also helps parents understand the effects of a disorder and ways it may be prevented or treated.

Getting genetic testing

Each parent's DNA may need to be checked. This is done to learn about some genetic inheritance patterns. Prenatal testing can also be done to check the baby in the womb for problems. Testing may include:

  • Ultrasound. This test uses sound waves to look at how a baby in the womb is growing.

  • Chorionic villus sampling (CVS). This test uses a sample of tissues around the baby to look for problems.

  • Amniocentesis. This test uses a sample of the amniotic fluid from the sac around the baby to check for problems. 

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.

Ashley Andrews, 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

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

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

Sarah L. Dugan, M.D.

Dr. Sarah Dugan graduated from The Johns Hopkins University School of Medicine in 2004. She completed an internship and residency in Pediatrics at the University of Utah and Primary Children’s Hospital in 2007 and a Genetics Fellowship at Stanford University in 2009. Before returning to Utah, Dr. Dugan was a clinical geneticist at Children’s Hosp... Read More

Josue Flores-Daboub, M.D.

Dr. Josue A. Flores Daboub received his medical degree from Dr. Jose Matias Delgado University Faculty of Medicine in El Salvador, completed his Pediatric residency at Lincoln Medical and Mental Health Center, and his Clinical Genetics Fellowship at Baylor College of Medicine. Dr. Flores Daboub is board certified in Clinical Genetics.He is currentl... Read More

Specialties:

Pediatric Genetics

Locations:

Primary Children's Hospital (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

Specialties:

Clinical Nutritionist/Dietitian, Pediatric Genetics

Locations:

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

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

Specialties:

Clinical Nutritionist/Dietitian, Pediatric Genetics

Locations:

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

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
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