The 20 Best Chromosome 13q Deletion Doctors Near Me in Pennsylvania, US

Find the Top Chromosome 13q Deletion Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 8 doctor with experience in Chromosome 13q Deletion near Pennsylvania, US. Of these, 4 are Advanced and 4 are Experienced.

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8 providers found
    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. His top areas of expertise are Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3.

    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. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency.

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

    Penn Translational Medicine And Human Genetics

    3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis.

    Learn about our expert tiers
    Advanced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    Advanced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Genetics, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Zackai is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

    Advanced in Chromosome 13q Deletion
    Medical Genetics
    Advanced in Chromosome 13q Deletion
    Medical Genetics
    1025 Walnut St Bldg Suite414, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Jinglan Liu is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Liu is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. Her top areas of expertise are Chromosome 22 Duplication, Chromosome 13q Deletion, Mosaic Trisomy 9, and Cornelia De Lange Syndrome.

    Experienced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    Experienced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    119 Adrienne Ln, 
    Wynnewood, PA 
    Languages Spoken:
    English

    Michael Schneider is a Medical Genetics specialist and a Pediatrics provider in Wynnewood, Pennsylvania. Dr. Schneider is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. His top areas of expertise are Microcephaly, Chromosome 6q Duplication, Chromosome 8p Deletion, and Delayed Growth.

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

    Children's Hospital Of Philadelphia

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

    Chaya Murali is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Murali is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. Her top areas of expertise are Osteogenesis Imperfecta, Retinopathy Pigmentary Mental Retardation, Autism Spectrum Disorder, Chromosome 2 Uniparental Disomy, and Myringotomy.

    Experienced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    Experienced in Chromosome 13q Deletion
    Medical Genetics | Pediatrics
    500 University Dr, Mc A410, 
    Hershey, PA 
    Languages Spoken:
    English

    Patricia Gordon is a Medical Genetics specialist and a Pediatrics provider in Hershey, Pennsylvania. Dr. Gordon is rated as an Experienced provider by MediFind in the treatment of Chromosome 13q Deletion. Her top areas of expertise are Phenylketonuria (PKU), Perlman Syndrome, Beckwith-Wiedemann Syndrome, and Proteus-Like Syndrome.

    Showing 1-8 of 8

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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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