The 20 Best Chromosome 21q Deletion Doctors in The United States

Find the Top Chromosome 21q Deletion Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 153 doctor with experience in Chromosome 21q Deletion near The United States. Of these, 108 are Experienced and 45 are Advanced.

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153 providers found
    Advanced in Chromosome 21q Deletion
    Pediatrics | Medical Genetics
    Advanced in Chromosome 21q Deletion
    Pediatrics | Medical Genetics
    Referral may be required

    Corewell Health Grand Rapids Hospitals Cancer Genetics - Lemmen-Holton

    145 Michigan Street Northeast, Suite 6300, 
    Grand Rapids, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Paul Mark is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. Dr. Mark is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses VACTERL Association, Chromosome 21q Deletion, Peters Plus Syndrome, and Hypotonia. Dr. Mark is board certified in American Board Of Medical Genetics And Genomics. Dr. Mark is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Advanced in Chromosome 21q Deletion
    Referral may be required

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

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q 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. Dr. Narumanchi is currently accepting new patients.

    Experienced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Experienced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

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

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

    Andrew Melnyk is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Melnyk is rated as an Experienced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Ehlers-Danlos Syndrome (EDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Chromosome 15q Deletion, and 3p Deletion Syndrome. Dr. Melnyk is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

    Learn about our expert tiers
    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Referral may be required

    Nemours Children's Health, Lake Nona Boulevard

    6718 Lake Nona Blvd., Suite 280, 
    Orlando, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Gifty Bhat is a Medical Genetics provider practicing medicine in Orlando, Florida. Dr. Bhat is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 133 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. Dr. Bhat is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Michigan Pediatric Genetics Clinic

    1540 East Hospital Drive, Floor 6, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Mark Hannibal is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Hannibal is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 167 other conditions, according to our data. His clinical expertise encompasses Aase Syndrome, 47 XYY Syndrome, 2q37 Deletion Syndrome, and Neu Laxova Syndrome. Dr. Hannibal is board certified in American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics - 2020 and Clinical Genetics & Genomics. Dr. Hannibal is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Michigan Pediatric Genetics Clinic

    1540 East Hospital Drive, Floor 6, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Amanda Pritchard is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Pritchard is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 150 other conditions, according to our data. Her clinical expertise encompasses Microcephaly Deafness Syndrome, Propionic Acidemia, Delayed Growth, and Costello Syndrome. Dr. Pritchard is board certified in American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics - 2019 , American Board Of Pediatrics, Pediatrics - 2016, and American Board Of Medical Genetics And Genomics, Medical Biochemical Genetics - 2019 . Dr. Pritchard is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required
    26901 76th Avenue, 
    New Hyde Park, NY 
    Languages Spoken:
    English
    Offers Telehealth

    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 21q Deletion. She is also highly rated in 153 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, Chromosome 13q Deletion, Early Infantile Epileptic Encephalopathy, and Acrodermatitis Enteropathica.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Obstetrics and Gynecology
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Obstetrics and Gynecology
    Referral may be required

    Adult Genetics And Preventive Genomics Clinic

    1825 Fourth St., 
    San Francisco, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Aleksandar Rajkovic is a Medical Genetics specialist and an Obstetrics and Gynecologist practicing medicine in San Francisco, California. Dr. Rajkovic is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Premature Ovarian Failure, Uterine Fibroids, Infertility, and Amenorrhea. Dr. Rajkovic is board certified in American Board Of Obstetrics And Gynecology, Obstetrics & Gynecology and American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics. Dr. Rajkovic is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    Pediatric Otolaryngology Clinic

    1540 E Hospital Dr, Floor 2 Reception A, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Kristen Lee is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Lee is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 139 other conditions, according to our data. Her clinical expertise encompasses Biotinidase Deficiency, Delayed Growth, Beta-Ketothiolase Deficiency, and Triple X Syndrome. Dr. Lee is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics & Genomics. Dr. Lee is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Referral may be required

    Pediatric Genetics Clinic

    1540 E Hospital Dr, Floor 6 Reception C, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Tomoyasu Higashimoto is a Medical Genetics provider practicing medicine in Ann Arbor, Michigan. Dr. Higashimoto is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 110 other conditions, according to our data. His clinical expertise encompasses Nevoid Basal Cell Carcinoma Syndrome, Methylmalonic Acidemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and Propionic Acidemia. Dr. Higashimoto is board certified in Family Medicine and Clinical Genetics & Genomics. Dr. Higashimoto is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Pediatrics | Medical Genetics | Geriatrics
    Advanced in Chromosome 21q Deletion
    Pediatrics | Medical Genetics | Geriatrics
    Referral may be required

    Nemours Children's Health, Lake Nona Boulevard

    6718 Lake Nona Blvd., Suite 280, 
    Orlando, FL 
    Languages Spoken:
    English, French, Mandarin
    Accepting New Patients

    Kathleen Pope is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Orlando, Florida. Dr. Pope is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 96 other conditions, according to our data. Her clinical expertise encompasses CHARGE Syndrome, Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, and Nicolaides-Baraitser Syndrome. Dr. Pope is board certified in AB Medical Genetics - Clinical Genetics, AB Pediatrics - Pediatrics, and American Board Of Medical Genetics And Genomics. Dr. Pope is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Advanced in Chromosome 21q Deletion
    Referral may be required

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Languages Spoken:
    English
    Offers Telehealth

    Nina Powell-Hamilton is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Powell-Hamilton is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 44 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, PIK3CA-Related Overgrowth Spectrum, Chromosome 13q Deletion, and Increased Head Circumference. Dr. Powell-Hamilton is board certified in American Board Of Medical Genetics And Genomics.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required
    910 Blackford St, 
    Chattanooga, TN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Cathy Stevens is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chattanooga, Tennessee. Dr. Stevens is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 164 other conditions, according to our data. Her clinical expertise encompasses Chromosome 6q Deletion, Microcephaly, Smith-Magenis Syndrome, and Miller-Dieker Syndrome. Dr. Stevens is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Referral may be required

    Department Of Neurology

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Lance Rodan is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Rodan is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 151 other conditions, according to our data. His clinical expertise encompasses Polymicrogyria, Hennekam Syndrome, Increased Head Circumference, and Retinopathy Pigmentary Mental Retardation. Dr. Rodan is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    Children's Hospital Medical Center

    3333 Burnet Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English, French
    Accepting New Patients

    Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cincinnati, Ohio. Dr. Hopkin is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 208 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Micrognathia, and Orchiectomy. Dr. Hopkin is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Zackai is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 100 other conditions, according to our data. Her clinical expertise encompasses Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    Iu Health Medical Group, LLC

    1701 N Senate Blvd, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients

    Melissa Lah is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Indianapolis, Indiana. Dr. Lah is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 134 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Prader-Willi Syndrome, Maternal Hyperphenylalaninemia, and Smith-Magenis Syndrome. Dr. Lah is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    UT Southwestern - Pediatrics

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

    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 21q Deletion. He is also highly rated in 178 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. Dr. Umana is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Advanced in Chromosome 21q Deletion
    Medical Genetics
    Referral may be required
    3333 Burnet Ave, Ml 4006, 
    Cincinnati, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Howard Saal is a Medical Genetics provider practicing medicine in Cincinnati, Ohio. Dr. Saal is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. He is also highly rated in 200 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Acrofacial Dysostosis Catania Type. Dr. Saal is currently accepting new patients.

    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 21q Deletion
    Medical Genetics | Pediatrics
    Referral may be required

    Children's Hospital Medical Center

    3333 Burnet Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Anne Slavotinek is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cincinnati, Ohio. Dr. Slavotinek is rated as an Advanced provider by MediFind in the treatment of Chromosome 21q Deletion. She is also highly rated in 146 other conditions, according to our data. Her clinical expertise encompasses Chromosome 13q Deletion, Tetrasomy 9p, Chromosome 6 Uniparental Disomy, and Mosaic Variegated Aneuploidy Syndrome. Dr. Slavotinek is currently accepting new patients.

    Showing 1-20 of 153

    Last Updated: 09/26/2026

    What is the definition of Chromosome 21q Deletion?

    Chromosome 21q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 21. 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 21q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children.

    When should I see a Chromosome 21q 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 21q 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 21q 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 21q 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 21q 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 21q Deletion doctor search results page. 

    Why is it important to get a second opinion from a different Chromosome 21q 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 21q 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 21q 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 21q 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 21q Deletion doctors in The United States?

    Look for the filter feature on the left side of the Chromosome 21q 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 21q Deletion doctor that offers video calls?

    Look for the filter feature on the left-side of the Chromosome 21q 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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