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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Clinical Genetics

Building Your Care Team and Initial Testing

At a Glance

A child newly diagnosed with Ring Chromosome 13 Syndrome needs a specialized care team, typically coordinated by a clinical geneticist. Immediate baseline testing should include a dilated eye exam, echocardiogram, kidney ultrasound, brain MRI, and critical blood clotting tests.

Managing a new diagnosis of Ring Chromosome 13 Syndrome requires a shift from “general” pediatric care to a specialized, multidisciplinary approach. Because the syndrome can affect multiple organ systems, the goal of the first few months is to establish a “baseline”—a clear picture of your child’s unique internal and external anatomy [1][2].

Building Your Specialist Team

A “medical home” led by a Clinical Geneticist is often the best way to coordinate care. Depending on your child’s specific breakpoints, you may need the following specialists:

  • Clinical Geneticist: To interpret genetic reports and coordinate overall care [3].
  • Pediatric Ophthalmologist: Urgent. Vital for screening for retinoblastoma if the RB1 gene is missing or if breakpoints are unknown [4][5].
  • Pediatric Cardiologist: To evaluate the heart’s structure and function [1][6].
  • Pediatric Neurologist: To monitor brain development and manage any structural brain differences or seizures [2][7].
  • Urologist or Nephrologist: To check the development of the kidneys and urinary tract [8][9].
  • Gastroenterologist: To address any feeding challenges or anorectal anomalies [10].
  • Supportive Therapies: Early intervention with physical therapy (PT), occupational therapy (OT), and speech therapy is crucial to help your child reach their developmental potential.

Immediate Baseline Tests

These tests are typically recommended shortly after diagnosis to rule out common internal complications:

  1. Dilated Eye Exam: An immediate check for any signs of retinal tumors [11].
  2. Echocardiogram (Heart Ultrasound): To check for congenital heart defects like “holes” in the heart or valve issues [1][12].
  3. Renal (Kidney) Ultrasound: To ensure the kidneys are properly formed and positioned [8][2].
  4. Brain MRI: To look for midline structures (like the corpus callosum, the bridge connecting the left and right sides of the brain) and check for malformations like Dandy-Walker or holoprosencephaly [13][2].
  5. Coagulation Studies: Blood tests to check levels of Factor VII and Factor X, as the genes for these clotting factors are located on chromosome 13 [14]. Warning: Low levels of these factors can significantly increase the risk of severe bleeding. It is critical that your surgical and anesthesia teams review these labs before any procedure or surgery [15].

Recurrence Risk and Family Planning

One of the first questions many parents ask is: “Will this happen again?”

  • De Novo Events: In the vast majority of cases, Ring 13 is a de novo (new) event—a random accident that occurred during the formation of the egg or sperm or very early in development [16]. If both parents have typical chromosomes, the risk of having another child with the same condition is extremely low (less than 1%) [3].
  • Parental Testing: Doctors recommend that both parents undergo a Karyotype and often FISH (Fluorescence In Situ Hybridization) testing [16][17]. This is to ensure that neither parent carries a balanced translocation—a scenario where a piece of a chromosome is swapped with another but no genetic material is lost or gained, making the parent completely healthy but increasing the chance of chromosomal differences in their eggs or sperm [18][19].
  • Future Pregnancies: Even if parental tests are normal, genetic counselors may discuss prenatal diagnosis options for future pregnancies due to the very rare possibility of “germline mosaicism” (where the mutation is present only in the parents’ egg or sperm cells) [3][19].

Your team’s experience with rare conditions is important. Do not hesitate to ask: “How many children with 13q deletions have you cared for?” or “Are you comfortable coordinating with our geneticist to manage my child’s specific needs?”

Common questions in this guide

Which doctors does my child need to see for Ring Chromosome 13 Syndrome?
A clinical geneticist will typically coordinate your child's care team. Depending on your child's specific symptoms, the team may also include a pediatric ophthalmologist, cardiologist, neurologist, nephrologist or urologist, and a gastroenterologist.
What baseline medical tests are needed after a Ring 13 diagnosis?
Shortly after diagnosis, your child should undergo a dilated eye exam, echocardiogram, kidney ultrasound, and a brain MRI. These imaging tests help doctors identify any internal structural differences that require monitoring or treatment.
Does my child need special blood tests before having surgery?
Yes, it is vital to have coagulation studies done before any surgical procedure. Because the genes for Factor VII and Factor X are located on chromosome 13, children with Ring 13 are at risk for deficiencies that can cause severe bleeding during surgery.
What is the chance of having another child with Ring 13 Syndrome?
In the vast majority of cases, Ring 13 is a random, new event (de novo), and the risk of having another child with the condition is less than 1 percent. Your doctor will likely recommend genetic testing for both parents to confirm this and assist with family planning.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Which of the specialists on this list have you already referred us to, and who should we prioritize first?
  2. 2.Can you help us coordinate these baseline tests (EKG, ultrasound, MRI) so our child can have as few appointments or sedations as possible?
  3. 3.Does my child need a coagulation study to check for Factor VII or Factor X deficiencies before any surgery?
  4. 4.How many patients with Ring 13 or similar 13q deletions have you or the specialists in this network treated?
  5. 5.Based on our parental karyotype results, what is our specific recurrence risk for future pregnancies?

Questions For You

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References

References (19)
  1. 1

    A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES.

    Garcia-Rodriguez E, Garcia-Garcia E, Perez-Sanchez A, Pavon-Delgado A

    Genetic counseling (Geneva, Switzerland) 2015; (26(2)):213-7.

    PMID: 26349191
  2. 2

    Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.

    Bellucco FT, Rodrigues de Oliveira-Júnior H, Santos Guilherme R, et al.

    Molecular syndromology 2019; (10(3)):139-146 doi:10.1159/000497402.

    PMID: 31191202
  3. 3

    Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.

    Hu XN, Li LL, Shi QY, et al.

    Taiwanese journal of obstetrics & gynecology 2021; (60(3)):554-558 doi:10.1016/j.tjog.2021.03.031.

    PMID: 33966748
  4. 4

    Retinoblastoma in Patients with 13q deletion syndrome - case series.

    Jedrychowska-Jamborska J, Morawski K, Kubicka-Trzaska A, Romanowska-Dixon B

    Klinika oczna 2016; (118(1)):32-35.

    PMID: 29715405
  5. 5

    Retinoblastoma and mosaic 13q deletion: a case report.

    Gargallo P, Oltra S, Balaguer J, et al.

    International journal of retina and vitreous 2021; (7(1)):50 doi:10.1186/s40942-021-00321-9.

    PMID: 34479642
  6. 6

    Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.

    Wang YP, Wang DJ, Niu ZB, Cui WT

    Molecular medicine reports 2017; (15(6)):3658-3664 doi:10.3892/mmr.2017.6425.

    PMID: 28393221
  7. 7

    Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.

    Petter C, Moreira LMA, Riegel M

    Case reports in genetics 2019; (2019()):7250838 doi:10.1155/2019/7250838.

    PMID: 31976095
  8. 8

    From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia.

    Yost M, Johnson T, Kaiser J, Yost C

    Cureus 2023; (15(9)):e45168 doi:10.7759/cureus.45168.

    PMID: 37711272
  9. 9

    Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review.

    He X, Shen H, Fu H, et al.

    BMC pediatrics 2020; (20(1)):327 doi:10.1186/s12887-020-02205-7.

    PMID: 32616040
  10. 10

    A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene.

    Chatmethakul T, Phaltas R, Minzes G, et al.

    Journal of pediatric genetics 2019; (8(3)):142-146 doi:10.1055/s-0038-1677551.

    PMID: 31406620
  11. 11

    Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion.

    Shah S, Koban Y, Le BHA, et al.

    Journal of pediatric ophthalmology and strabismus 2018; (55()):e10-e13 doi:10.3928/01913913-20180215-02.

    PMID: 29684226
  12. 12

    Cromosoma 13 en anillo.

    Cammarata-Scalisi F, Briceño Y, Cegarra E, Montilla D

    Boletin medico del Hospital Infantil de Mexico 2019; (76(2)):100-103 doi:10.24875/BMHIM.18000108.

    PMID: 30907385
  13. 13

    22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

    Alp MY, Çebi AH, Seyhan S, et al.

    Genetic counseling (Geneva, Switzerland) 2016; (27(1)):43-9.

    PMID: 27192891
  14. 14

    Bilateral Cleft Lip and Palate Accompanied by 13q- Syndrome with Deficiencies of FVII and FX: A Case Report.

    Mishima K, Shiraishi M, Umeda H

    The Journal of clinical pediatric dentistry 2019; (43(4)):288-291 doi:10.17796/1053-4625-43.4.11.

    PMID: 31094634
  15. 15

    Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.

    Pavlova A, Preisler B, Driesen J, et al.

    Haemophilia : the official journal of the World Federation of Hemophilia 2015; (21(3)):386-391 doi:10.1111/hae.12604.

    PMID: 25582404
  16. 16

    13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.

    Dittner-Moormann S, Reschke M, Biewald E, et al.

    Molecular cytogenetics 2020; (13()):31 doi:10.1186/s13039-020-00500-7.

    PMID: 32760450
  17. 17

    A Case Study of Ring Chromosome 13 in a Pediatric Patient.

    Okabe A, Palencia D, Trejo-Solis D, et al.

    Journal of the Association of Genetic Technologists 2021; (47(2)):75-77.

    PMID: 34140436
  18. 18

    Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin.

    Chen CP, Chen CY, Chern SR, et al.

    Taiwanese journal of obstetrics & gynecology 2021; (60(4)):771-774 doi:10.1016/j.tjog.2021.05.033.

    PMID: 34247823
  19. 19

    Autosomal ring chromosomes in human genetic disorders.

    Yip MY

    Translational pediatrics 2015; (4(2)):164-74 doi:10.3978/j.issn.2224-4336.2015.03.04.

    PMID: 26835370

This page provides general information about building a care team and baseline testing for Ring Chromosome 13 Syndrome. It is not medical advice; always consult your clinical geneticist for a care plan tailored to your child.

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