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Ring Chromosome 7

Ring Chromosome 7 Syndrome


Presentation

  • An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described.[ncbi.nlm.nih.gov]
Vietnamese
Respiratory Distress
  • distress * Small penis * Growth retardation * Mental retardation * Feeding difficulty * Failure to thrive Causes - Chromosome 7 ring syndrome Not supplied.[checkorphan.org]
  • Methods Patient and Clinical examination A female child with microcephaly (Figure 1 A and 1B , pictures taken at one year and 10 months of age) and respiratory distress was referred to the genetic counselling at the department of Pediatrics at Tzu Chi[molecularcytogenetics.biomedcentral.com]
  • distress syndrome ADULT syndrome Aicardi syndrome Aicardi-Goutieres syndrome Akaba Hayasaka Syndrome Akesson Syndrome akinetic mutism Aksu von Stockhausen Syndrome Al Awadi Syndrome Al Gazali Aziz Salem Syndrome Al Gazali Hirschsprung Syndrome Al Gazali[rgd.mcw.edu]
Failure to Thrive
  • […] to thrive Causes - Chromosome 7 ring syndrome Not supplied.[checkorphan.org]
  • […] to thrive Highly arched palate Bilateral hydronephrosis Delayed gross motor skills Mechanisms of ring formation [ edit ] By two DNA breaks, one in each arm of the same chromosome, followed by fusion of the proximal broken ends.[en.wikibooks.org]
  • They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies.[tp.amegroups.com]
Hepatosplenomegaly
  • A 62-year-old female patient presented with thrombocytopenia, isolated hepatosplenomegaly, and extremely high levels of LDH.[ncbi.nlm.nih.gov]
Unilateral Ptosis
  • ptosis Dropping of one upper eyelid 0007687 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal[rarediseases.info.nih.gov]
Normal Hearing
  • Genital examination and menstrual history were also normal. Hearing and eyesight were normal. However MM6’s developmental milestones were severely delayed: she had speech delay and severe intellectual impairments.[slideshare.net]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Small earlobe Small earlobes 0000385 Speech articulation difficulties 0009088 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Unilateral ptosis Dropping of one upper eyelid 0007687 Wide[rarediseases.info.nih.gov]
Skin Lesion
  • This association is possibly not fortuitous, particularly since most ring chromosome 7 patients reported to date have pigmented skin lesions.[ncbi.nlm.nih.gov]
  • However, patients with partial trisomy have speech difficulty as a distinguishing feature, while patients with partial monosomy have skin lesions as a cardinal feature.[ingentaconnect.com]
Widely Spaced Nipples
  • Clinical examination revealed a dysmorphic face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hands and feet, and dark pigmented naevi over the abdomen, thorax and thigh (see Figures[slideshare.net]
Shortened Nose
  • nose [ more ] 0003196 Slender finger Narrow fingers Slender fingers thin fingers [ more ] 0001238 Ventriculomegaly 0002119 5%-29% of people have these symptoms Abnormal cerebellum morphology Abnormality of the cerebellum Cerebellar abnormalities Cerebellar[rarediseases.info.nih.gov]
Quadriplegia
  • Deep plantar creases * Café au lait spots * Pigmented nevi * Nevus flammeus * Fusion of cerebral hemispheres * Agenesis of olfactory bulb * Teterotopic Purkinje cells in cerebellar white matter * Brain atrophy * Brain hypomyelination * Convulsions * Quadriplegia[checkorphan.org]
Waddling Gait
  • Arslan M, Yis U, Vurucu S, Tunca Y, Unay B, et al. (2012) Ring chromosome 21 in the differential diagnosis of waddling gait. Brain Dev 34: 792-795.[omicsonline.org]

Workup

  • When fetuses present with severe IUGR, oligohydramnios and multicystic kidney, chromosomal aberrations should be kept in mind, and perinatal cytogenetic workup is warranted.[researchoutput.ncku.edu.tw]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment - Chromosome 7 ring syndrome Not supplied. Resources - Chromosome 7 ring syndrome Chromosome 7 ring syndrome is listed as a \"rare disease\" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).[checkorphan.org]
  • Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services.[rarediseases.info.nih.gov]

Prognosis

  • Objective: Ring chromosome 7 is a very rare chromosomal anomaly that may have a grave prognosis. Nevertheless, the clinical features associated with ring chromosome 7 are highly variable.[researchoutput.ncku.edu.tw]
  • Prognosis - Chromosome 7 ring syndrome Not supplied. Treatment - Chromosome 7 ring syndrome Not supplied.[checkorphan.org]
  • MLL) can occur in acute myeloid leukemia cases and are associated with a poor prognosis in all leukemias.[hoajonline.com]
  • Interestingly, leukemia with translocations involving MLL shows poor prognosis.[scielo.br]
  • Variation in the size of ring, as well as distribution of mosaicism in different organs, may influence prognosis. Conclusion The mosaicism for a chromosomal anomaly is an under-recognised cause of intellectual disability.[slideshare.net]

Etiology

  • HPE is a phenotypically variable disorder with heterogeneous etiology including both genetic and environmental causes.[cyberleninka.org]
  • Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood. 2004;103(1):229-35. [ Links ] 23. Sárová I, Brezinová J, Zemanová Z, et al.[scielo.br]
  • Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood. 2004; 103 :229-35. Article PubMed[hoajonline.com]

Epidemiology

  • Shiota, "Holoprosencephaly in human embryos: epidemiologic studies of 150 cases," Teratology, vol. 16, no. 3, pp. 261-272,1977. [6] J. R. Sawyer, J. L. Lukacs, S. J.[cyberleninka.org]
  • In accordance with its purpose as a scientific research platform, the GAZEL cohort is permanently open to epidemiologic research teams.[re3data.org]
  • Epidemiology of adult acute myeloid leukemia: Impact of exposures on clinical phenotypes and outcomes after therapy. Cancer Epidemiol. 2015;39(6):1084-92. [ Links ] 36. Larsson SC, Wolk A.[scielo.br]
Sex distribution
Age distribution

Prevention

  • Prevention - Chromosome 7 ring syndrome Not supplied. Diagnosis - Chromosome 7 ring syndrome signs and symptoms of Chromosome 7 ring syndrome may vary on an individual basis for each patient.[checkorphan.org]
  • Before starting the treatment, we perform some necessary tests that will help us uncover what prevents you from conceiving a baby. Each couple is different and therefore needs a consultation with a professional. Many thanks to you![int.pronatal.cz]
  • Tags: Feature 05 March 2019 DNA cable tie vital role in cancer prevention A cable tie-style ring of proteins that hold our chromosomes together as they replicate play a vital role in stopping DNA damage leading to cancer. Tags: Feature[ukri.org]
  • For affected infants with craniosynostosis, depending on the number and type of cranial suture(s) involved and other factors, early surgery may be advised to help prevent abnormal shaping of the head, increase skull capacity, and/or prevent possible neurologic[rarediseases.org]
  • Out of 123 genes that were found to be recurrently amplified and overexpressed, at least 25 have been reported to positively regulate proliferation, promote cell growth and/or prevent apoptosis.[academic.oup.com]

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