The 20 Best Chromosome 13q Deletion Doctors in The United States

Find the Top Chromosome 13q Deletion Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 185 doctor with experience in Chromosome 13q Deletion near The United States. Of these, 134 are Experienced and 51 are Advanced.

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185 providers found
    Advanced in Chromosome 13q Deletion
    Advanced in Chromosome 13q Deletion

    ETSU Physicians & Associates- Pediatrics

    325 N State Of Franklin Rd, 
    Johnson City, TN 
    Languages Spoken:
    English

    . Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

    Advanced in Chromosome 13q Deletion
    Medical Genetics
    Advanced in Chromosome 13q Deletion
    Medical Genetics

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.

    Advanced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    26901 76th Avenue, 
    New Hyde Park, NY 
    Languages Spoken:
    English

    Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New Hyde Park, New York. Dr. Fernandes is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 153 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, Chromosome 13q Deletion, Hennekam Syndrome, and Acrodermatitis Enteropathica.

    Learn about our expert tiers
    Advanced in Chromosome 13q Deletion
    Medical Genetics
    Advanced in Chromosome 13q Deletion
    Medical Genetics

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    30+ years
    Languages Spoken:
    English
    Offers Telehealth

    Nina Powell is a Medical Genetics provider practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 30 years. Dr. Powell is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, PIK3CA-Related Overgrowth Spectrum, Chromosome 13q Deletion, and Increased Head Circumference. Dr. Powell is board certified in American Board Of Medical Genetics And Genomics.

    Advanced in Chromosome 13q Deletion
    Advanced in Chromosome 13q Deletion

    Phoenix Children's Hospital - Genetics

    1919 E Thomas Rd, 
    Phoenix, AZ 
    Languages Spoken:
    English
    Accepting New Patients

    Theresa Grebe is a Pediatrics provider practicing medicine in Phoenix, Arizona. Dr. Grebe is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 96 other conditions, according to our data. Her clinical expertise encompasses Chromosome 6 Uniparental Disomy, Temple Syndrome, Congenital Bowing of Long Bones, and DiGeorge Syndrome. Dr. Grebe is board certified in Medical Genetics And Genomics Clin Genetics & Genomic. Dr. Grebe is currently accepting new patients.

    Advanced in Chromosome 13q Deletion
    Pediatrics | Medical Genetics
    Advanced in Chromosome 13q Deletion
    Pediatrics | Medical Genetics

    Corewell Health Grand Rapids Hospitals Medical Genetics - 25 Michigan St NE

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Experience:
    10+ years
    Languages Spoken:
    English, Spanish

    Linda Rossetti is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 10 years. Dr. Rossetti is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 87 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Miller-Dieker Syndrome, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Rossetti is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

    Experienced in Chromosome 13q Deletion
    Experienced in Chromosome 13q Deletion

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

    Experienced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    Experienced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    2201 Henderson Mill Rd Ne, Suite 160 C/o Esession, 
    Atlanta, GA 
    Languages Spoken:
    English, Japanese
    Accepting New Patients

    Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.

    Advanced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics

    UT Southwestern - Pediatrics

    5323 Harry Hines Blvd, 
    Dallas, TX 
    Languages Spoken:
    English, Spanish

    Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. He is also highly rated in 177 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

    Advanced in Chromosome 13q Deletion
    Pediatrics | Medical Genetics
    Advanced in Chromosome 13q Deletion
    Pediatrics | Medical Genetics

    UT Southwestern - Pediatric Genetics

    1935 Medical District Dr, 
    Dallas, TX 
    Languages Spoken:
    English

    Angela Scheuerle is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Scheuerle is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 170 other conditions, according to our data. Her clinical expertise encompasses Hennekam Syndrome, Fetal Akinesia Sequence, Hemihyperplasia, and Incontinentia Pigmenti.

    Advanced in Chromosome 13q Deletion
    Medical Genetics
    Advanced in Chromosome 13q Deletion
    Medical Genetics

    UT Southwestern - Pediatric Genetics

    1935 Medical District Dr, 
    Dallas, TX 
    Languages Spoken:
    English, Spanish

    Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 132 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).

    Experienced in Chromosome 13q Deletion
    Medical Genetics
    Experienced in Chromosome 13q Deletion
    Medical Genetics

    Greenwood Genetic Center– Greenville

    14 Edgewood Drive, 
    Greenville, SC 
    Languages Spoken:
    English
    Accepting New Patients

    Elliot Stolerman is a Medical Genetics provider practicing medicine in Greenville, South Carolina. Dr. Stolerman is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. His clinical expertise encompasses Autism Spectrum Disorder, Chromosome 13q Deletion, Polymicrogyria, and Chondrodystrophy. Dr. Stolerman is currently accepting new patients.

    Experienced in Chromosome 13q Deletion
    Pediatrics
    Experienced in Chromosome 13q Deletion
    Pediatrics

    Cleveland Clinic Main Campus

    10524 Euclid Avenue, 
    Cleveland, OH 
    Experience:
    29+ years
    Languages Spoken:
    English

    Julie Kaplan is a Pediatrics provider practicing medicine in Cleveland, Ohio. She has been practicing medicine for over 29 years. Dr. Kaplan is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Mosaicism, Gingival Fibromatosis with Hypertrichosis, Mixed Gonadal Dysgenesis, and Turner Syndrome. Dr. Kaplan is board certified in American Board Of Medical Genetics And Genomics, 2020.

    Experienced in Chromosome 13q Deletion
    Experienced in Chromosome 13q Deletion

    Corewell Health William Beaumont University Hospital Pediatric Genetics

    3555 West 13 Mile Road, Suite N300, 
    Royal Oak, MI 
    Experience:
    10+ years
    Languages Spoken:
    English
    Accepting New Patients

    Stephanie Campbell is a Pediatrics provider practicing medicine in Royal Oak, Michigan. She has been practicing medicine for over 10 years. Dr. Campbell is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Increased Head Circumference, Delayed Growth, Congenital Athymia, and Acromesomelic Dysplasia Campailla Martinelli Type. Dr. Campbell is board certified in American Board Of Pediatrics. Dr. Campbell is currently accepting new patients.

    Experienced in Chromosome 13q Deletion
    Experienced in Chromosome 13q Deletion

    N Building - Education Building And Lerner Research Institute

    9620 Carnegie Avenue, 
    Cleveland, OH 
    Languages Spoken:
    English, French, German, Spanish
    Offers Telehealth

    Angelika Erwin is a Pediatrics provider practicing medicine in Cleveland, Ohio. Dr. Erwin is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, Gaucher Disease Type 3, and Gaucher Disease Type 1. Dr. Erwin is board certified in American Board Of Medical Genetics And Genomics, 2013.

    Experienced in Chromosome 13q Deletion
    Experienced in Chromosome 13q Deletion

    The Children's Hospital At Montefiore

    3415 Bainbridge Avenue, 
    Bronx, NY 
    Languages Spoken:
    English

    Dr. Marion is Executive Director of the Children’s Evaluation and Rehabilitation Center and the University Center of Excellence in Developmental Disabilities at the Rose F. Kennedy Center. He is Chief of the Divisions of Genetics and of Development Medicine at the Children’s Hospital at Montefiore and Director of the Center for Congenital Disorders. A faculty member at Einstein since 1984, Dr. Marion’s interests include the natural history and genetic basis of multiple malformation syndromes. At The Children’s Hospital at Montefiore he has served as Medical Director of the Spina Bifida Center for 20 years, is the founder and Medical Director of the Williams Syndrome Center, and helped organize the Center for CardioG enetics, the Neurofibromatosis Center, and the Center for Excellence in Autism. He has published extensively in the medical literature in these areas and, in addition, is the author of seven books. Dr. Marion is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, and Mucopolysaccharidoses (MPS).

    Experienced in Chromosome 13q Deletion
    Medical Genetics
    Experienced in Chromosome 13q Deletion
    Medical Genetics

    Duke Health Integrated Practice Inc

    40 Duke Medicine Cir, 
    Durham, NC 
    Experience:
    25+ years
    Languages Spoken:
    English, Russian
    Offers Telehealth

    I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Hypotonia. Dr. Niyazov is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General.

    Experienced in Chromosome 13q Deletion
    Medical Genetics
    Experienced in Chromosome 13q Deletion
    Medical Genetics

    Greenwood Genetic Center– Charleston

    3520 West Montague Avenue, 
    Charleston, SC 
    Languages Spoken:
    English
    Accepting New Patients

    Michael Lyons is a Medical Genetics provider practicing medicine in Charleston, South Carolina. Dr. Lyons is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Delayed Growth, Microcephaly, Autism Spectrum Disorder, and Duane-Radial Ray Syndrome. Dr. Lyons is currently accepting new patients.

    Experienced in Chromosome 13q Deletion
    Pediatrics | Medical Genetics
    Experienced in Chromosome 13q Deletion
    Pediatrics | Medical Genetics

    Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Experience:
    8+ years
    Languages Spoken:
    English
    Offers Telehealth

    Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

    Advanced in Chromosome 13q Deletion
    Medical Genetics
    Advanced in Chromosome 13q Deletion
    Medical Genetics

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    3+ years
    Languages Spoken:
    English

    Gifty Bhat is a Medical Genetics provider practicing medicine in Orlando, Florida. She has been practicing medicine for over 3 years. Dr. Bhat is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. She is also highly rated in 134 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, HNRNPH2-Related Disorder, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Bhat is board certified in American Board Of Medical Genetics And Genomics.

    Showing 1-20 of 185

    Last Updated: 04/28/2026

    What is the definition of Chromosome 13q Deletion?

    Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with Chromosome 13q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion.

    When should I see a Chromosome 13q Deletion doctor in The United States?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Chromosome 13q Deletion doctor in The United States?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Chromosome 13q Deletion doctors in The United States?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Chromosome 13q Deletion doctors in The United States?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Chromosome 13q Deletion doctor in The United States?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Chromosome 13q Deletion doctor search results page. 

    Why is it important to get a second opinion from a different Chromosome 13q Deletion doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Chromosome 13q Deletion doctor in The United States?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Chromosome 13q Deletion doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Chromosome 13q Deletion doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Chromosome 13q Deletion doctors in The United States?

    Look for the filter feature on the left side of the Chromosome 13q Deletion doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Chromosome 13q Deletion doctor that offers video calls?

    Look for the filter feature on the left-side of the Chromosome 13q Deletion doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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