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PubMed This is a summary of 59 peer-reviewed journal articles Updated
Genetics · Monosomy 5p

Starting Your Journey with Monosomy 5p (Cri du Chat)

At a Glance

Monosomy 5p, or Cri du Chat syndrome, is a rare genetic condition caused by a missing piece of chromosome 5. While it requires lifelong multidisciplinary care and early intervention like physical and speech therapy, most individuals have a normal life expectancy when health issues are managed.

Receiving a diagnosis of Monosomy 5p—commonly known as Cri du Chat syndrome—can feel like the world has suddenly shifted. It is completely normal to feel a range of emotions, from overwhelming grief and confusion to a fierce protective instinct for your child. Please know that while this condition is rare, there is a vibrant community of families walking this same path, and your child’s potential is not defined by a laboratory report [1].

Understanding the Diagnosis

The name Monosomy 5p describes the biological mechanism: a portion of the “short arm” (p) of the 5th chromosome is missing [2]. Because each person typically has two copies of chromosome 5, your child has one full copy and one copy that is shorter than it should be [3][4]. Both copies are required for the body to develop and function correctly.

This condition is rare, occurring in approximately 1 in 15,000 to 1 in 50,000 live births [5]. Because of this rarity, many pediatricians may never have seen a case in their entire career. This does not mean your child cannot be well cared for; it simply means you will often work with a multidisciplinary team—a group of specialists including geneticists, neurologists, and therapists who combine their expertise to support your child’s unique needs [6][7].

To understand how this genetic change affects your child’s development, read about the Symptoms and Physical Features and dive deeper into Genetics and Diagnostic Testing.

Grounding Facts for the Journey Ahead

As you navigate the first few weeks following a diagnosis, keep these three stabilizing facts in mind:

01

Looking Ahead: Adulthood and Long-Term Outlook

Learn about the long-term outlook for adults with Monosomy 5p (Cri du Chat) syndrome. Understand life expectancy, lifelong care needs, and legal planning.

02

Building Your Care Team and Starting Early Interventions

Learn how to build a care team and start early interventions for Monosomy 5p (Cri du Chat). Understand speech therapy, feeding safety, and behavioral support.

The Role of Genetics

In about 85% of cases, the deletion occurs “de novo,” meaning it happened by chance during the formation of the egg or sperm and was not inherited from either parent. In the remaining cases, it may be related to a balanced translocation in a parent—where a piece of a chromosome has swapped places but no genetic material is missing in the parent. Identifying this can help you understand the likelihood of the condition occurring in future pregnancies [15][16].

Looking Forward

Every child with Monosomy 5p has a unique genetic “map.” Modern tools like genomic arrays help doctors see exactly which genes are missing, which can sometimes help predict specific health needs [17][18]. While the path ahead involves more appointments and therapies than you may have expected—as outlined in Medical Comorbidities and Health Monitoring—it is also a path filled with milestones that are all the more precious for the effort it took to reach them.

Common questions in this guide

What causes Monosomy 5p (Cri du Chat syndrome)?
Monosomy 5p is caused by a missing portion of the short arm of the 5th chromosome. In about 85% of cases, this deletion happens randomly during conception, while a smaller percentage is inherited from a parent with a balanced translocation.
Will the high-pitched, cat-like cry go away?
Yes, the characteristic cry associated with Cri du Chat syndrome typically changes and becomes less noticeable over time. As your child grows and the anatomy of their throat and voice box matures, the sound usually improves.
What is the life expectancy for a child with Monosomy 5p?
Individuals with Monosomy 5p generally have a normal life expectancy when early medical issues are properly managed. Comprehensive care from a multidisciplinary team is key to supporting their long-term health.
What early interventions are most important for my child?
Starting physical, occupational, and speech therapy as early as possible is highly recommended. Because a young child's brain is highly adaptable, these therapies can significantly improve their ability to reach developmental milestones and gain independence.
Should parents be tested genetically if their child is diagnosed?
Yes, parents are often offered genetic testing to check for a balanced translocation. Identifying this helps determine if the chromosomal deletion was inherited, which provides important information about the likelihood of the condition occurring in future pregnancies.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How large is the deletion on the short arm of my child's 5th chromosome, and which specific genes are involved?
  2. 2.Based on my child's specific genetic report, are there any immediate concerns for their heart or vision that require a specialist's evaluation?
  3. 3.Does our child have a 'de novo' deletion, or should we be tested for a balanced translocation to understand risks for future pregnancies?
  4. 4.What early intervention services (like physical or occupational therapy) do you recommend we start immediately to support my child's development?
  5. 5.Can you recommend a multidisciplinary clinic or a genetic counselor who has experience specifically with Cri du Chat syndrome?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome.

    Kodra Y, Cavazza M, de Santis M, et al.

    International journal of environmental research and public health 2020; (17(16)) doi:10.3390/ijerph17165951.

    PMID: 32824402
  2. 2

    Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.

    Danesino C, Biglioli F, Moneghini L, et al.

    International journal of molecular sciences 2024; (25(19)) doi:10.3390/ijms251910664.

    PMID: 39408992
  3. 3

    Long-Term Follow-Up on Bilateral Posterior Hypothalamic Deep Brain Stimulation for Treating Refractory Aggressive Behavior in a Patient with Cri du Chat Syndrome: Analysis of Clinical Data, Intraoperative Microdialysis, and Imaging Connectomics.

    López Ríos AL, Germann J, Hutchison WD, et al.

    Stereotactic and functional neurosurgery 2022; (100(5-6)):275-281 doi:10.1159/000526871.

    PMID: 36446334
  4. 4

    Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease.

    Holland P, Wildhagen M, Istre M, et al.

    Clinical epigenetics 2022; (14(1)):128 doi:10.1186/s13148-022-01350-3.

    PMID: 36242045
  5. 5

    18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome.

    Cistaro A, Schiera IG, Fania P, et al.

    Neurocase 2021; (27(3)):319-322 doi:10.1080/13554794.2021.1957118.

    PMID: 34338587
  6. 6

    Cri-Du-Chat Syndrome - A Rare Case Report.

    Dhanasekaran B, Srinivasan R, Kanagamuthu P, et al.

    Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2023; (75(4)):3993-3998 doi:10.1007/s12070-023-04039-y.

    PMID: 37974816
  7. 7

    [Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome].

    He W, Chen H, Mu H, Li J

    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018; (35(1)):104-106 doi:10.3760/cma.j.issn.1003-9406.2018.01.024.

    PMID: 29419873
  8. 8

    Tubo-ovarian abscess in a patient with cri du chat syndrome: A case report.

    Fujimori M, Kyozuka H, Sugeno M, et al.

    Fukushima journal of medical science 2022; (68(1)):57-61 doi:10.5387/fms.2021-31.

    PMID: 35314525
  9. 9

    Perioperative Care of a Child With Cri Du Chat Syndrome.

    Davis C, Grischkan J, Tobias JD

    Journal of medical cases 2020; (11(9)):279-282 doi:10.14740/jmc3494.

    PMID: 34434412
  10. 10

    [Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary].

    Choi JS, Yoo EA, Choi JO, Kim SJ

    Taehan Yongsang Uihakhoe chi 2020; (81(4)):979-984 doi:10.3348/jksr.2020.81.4.979.

    PMID: 36238176
  11. 11

    [Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report].

    Bouh AH, Nejjari M, Hassan AO, et al.

    The Pan African medical journal 2023; (46()):109 doi:10.11604/pamj.2023.46.109.42239.

    PMID: 38435407
  12. 12

    Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

    Zhang B, Willing M, Grange DK, et al.

    American journal of medical genetics. Part A 2016; (170(3)):583-93 doi:10.1002/ajmg.a.37445.

    PMID: 26601658
  13. 13

    Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.

    Papadopoulou S, Anagnostopoulou A, Katsarou DV, et al.

    Children (Basel, Switzerland) 2024; (11(12)) doi:10.3390/children11121526.

    PMID: 39767955
  14. 14

    The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report.

    Yardımcı-Lokmanoğlu BN, Mutlu A, Livanelioğlu A, Haliloğlu G

    The Turkish journal of pediatrics 2021; (63(1)):167-173.

    PMID: 33686841
  15. 15

    Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

    Alkaya DU, Karaman B, Tüysüz B

    Molecular syndromology 2020; (11(2)):97-103 doi:10.1159/000506892.

    PMID: 32655341
  16. 16

    Prenatal diagnosis of 5p deletion syndrome: Report of five cases.

    Mak ASL, Ma TWL, Chan KYK, et al.

    The journal of obstetrics and gynaecology research 2019; (45(4)):923-926 doi:10.1111/jog.13911.

    PMID: 30932301
  17. 17

    Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.

    Almeida VT, Chehimi SN, Gasparini Y, et al.

    Molecular syndromology 2023; (13(6)):527-536 doi:10.1159/000524371.

    PMID: 36660031
  18. 18

    Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies.

    He JP, Qian Y, Liu WJ, et al.

    Taiwanese journal of obstetrics & gynecology 2021; (60(2)):318-323 doi:10.1016/j.tjog.2021.01.010.

    PMID: 33678334

This page provides educational information about Monosomy 5p (Cri du Chat syndrome) for newly diagnosed families. It does not replace professional medical advice from your child's geneticist or pediatrician.

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