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Ring Chromosome 15

Chromosome 15 Ring Syndrome


Presentation

  • Abstract In this paper, the authors present the case of a 24-year-old female with ring 15 chromosome syndrome.[ncbi.nlm.nih.gov]
Severe Clinical Course
  • Discussion We report a case of ring chromosome 15 in an infant girl who died after a severe clinical course at the age of 33/4 months. A lethal course has not been reported among the 21 previous cases with this rare chromosomal disorder.[docslide.com.br]
Delayed Dentition
  • In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth, three café au lait spots, and delayed dentition.[ncbi.nlm.nih.gov]
Miosis
  • الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏[books.google.com]
Hirsutism
  • PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome size; no apparent loss of chromosome material; minimal instability of chromosome constitution; and parents with normal karyotype (2) 2 months/FMild hirsutism[edmcasereports.com]
  • Our patient, a Caucasoid Asian woman, presented with short stature, microcephaly, minor dysmorphic features, hyperextensible knees, generalized hirsutism, café-au-lait and small hypochromic spots spread over her face and the front of her chest and abdomen[jmedicalcasereports.biomedcentral.com]
Hypopigmented Macule
  • Two unrelated girls presented with multiple disseminated, paired, small café-au-lait spots and hypopigmented macules, suggesting didymosis (twin spotting).[ncbi.nlm.nih.gov]
Clitoromegaly
  • […] hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome size; no apparent loss of chromosome material; minimal instability of chromosome constitution; and parents with normal karyotype (2) 2 months/FMild hirsutism, clitoromegaly[edmcasereports.com]
Hyperreflexia
  • (1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome[edmcasereports.com]
  • […] binding protein - Changes transcription of many proteins - Huntington Disease -Clinical Features -Age dependent penetration, depending on repeat size - Mean age of onset is about 40 - Early signs and symptoms - Minor motor abnormalities - Clumsiness - Hyperreflexia[quizlet.com]
Babinski Sign
  • (1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome[edmcasereports.com]
  • The patient was referred to our Unit because of persistent thrombocytopenia and syndactyly, pes planus and a bilateral Babinski sign. The remainder of physical examination revealed curly hair, thin upper lip, broad nasal bridge and tip.[omicsonline.org]
Clonus
  • (1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome[edmcasereports.com]
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]
Mydriasis
  • الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏[books.google.com]

Workup

  • Genetic diagnosis in cases of SS is important because it can end the diagnostic workup for the patient, it may alert the clinician to other medical comorbidities for which the patient is at risk, and it is extremely valuable for the genetic counselling[abstracts.eurospe.org]
Insulin-like Growth Factor I Increased
  • During the first year of treatment, the insulin-like growth factor I increased from subnormal 4.2 nmol/l to normal 13.8 nmol/l and the insulin-like growth factor binding protein 3 levels increased from 2.6 to 3.8 mg/l, whereas high binding protein 1 concentrations[ncbi.nlm.nih.gov]

Treatment

  • There was no significant difference between the mean GH concentrations during rhIGF-I treatment (5.32 /- 6.2 mU/l) compared with that before rhIGF-I treatment (8.46 /- 10.2 mU/l).[ncbi.nlm.nih.gov]
  • During the two years of treatment his relative height improved from -6.2 SD to -4.4 SD and the predicted adult height from 159.6 cm to 163.5 cm. Owing to the good growth response, we have decided to continue GH treatment.[jmg.bmj.com]
  • The complications of Ring Chromosome 15 Syndrome may include: Heart and kidney abnormalities Intellectual impairment Complications may occur with or without treatment, and in some cases, due to treatment also.[dovemed.com]
  • Standard Therapies Treatment The treatment of Chromosome 15 Ring is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]

Prognosis

  • MLL) can occur in acute myeloid leukemia cases and are associated with a poor prognosis in all leukemias.[hoajonline.com]
  • The prognosis is excellent regardless of whether they are superficial or deep-seated, although intramuscular lipomas with an infiltrative growth pattern may recur locally ( 3 ).[spandidos-publications.com]
  • Congenital anomalies also major cause of long-term Morbidity, Mental retardation, and other dysfunctions -The practitioner to develop a rational approach to the diagnostic evaluation of a patient with a birth defect -The practitioner *Predictions about prognosis[quizlet.com]

Etiology

  • (Etiology) Ring Chromosome 15 Syndrome is caused by an abnormal chromosome known as a ring chromosome 15 or r(15).[dovemed.com]
  • Our goal is to determine the molecular etiology of the seizures associated with the ring chromosome 14 syndrome.[ring14.org]
  • Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism.[epilepsydiagnosis.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 :229-35. Article PubMed[hoajonline.com]

Epidemiology

  • Relevant External Links for MAGEL2 Genetic Association Database (GAD) MAGEL2 Human Genome Epidemiology (HuGE) Navigator MAGEL2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MAGEL2 No data available for Genatlas for MAGEL2 Gene The human[genecards.org]
  • In accordance with its purpose as a scientific research platform, the GAZEL cohort is permanently open to epidemiologic research teams.[re3data.org]
  • Williams-Beuren Syndrome Duchenne Muscular Dystrolphy Cleft Palate and Lip International Classification of Diseases The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology[embryology.med.unsw.edu.au]
Sex distribution
Age distribution

Pathophysiology

  • […] thalassemia -Carrier individuals acquire protective advantage against MALARIA -Coexistence - Structural Hb variant (Hb E) may also lead to thalassemia like features -Prevalence: -Mainly in Mediterranean, Middle East, Parts of Africa and Asia Thalassemias (Pathophysiology[quizlet.com]

Prevention

  • How can Ring Chromosome 15 Syndrome be Prevented? Currently, Ring Chromosome 15 Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Telomeres are located at the end of each chromosome, are composed of DNA and protein complexes and serve as caps to maintain chromosome integrity and to prevent chromosomes from fusing and from degradation.[mhmedical.com]
  • 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]
  • Risk Factors and Preventive Measures Most chromosomal disorders are random events for which there are no preventive measures.[thisability.org]

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