Abstract In this paper, the authors present the case of a 24-year-old female with ring 15 chromosome syndrome. [ncbi.nlm.nih.gov]

Our patient´s parents presented with normal karyotypes. [jmedicalcasereports.biomedcentral.com]

• Normal Stature

  She had normal stature, head circumference, and deep tendon reflexes ( Figure 1 ). Hearing screen, electrocardiography, echocardiography, abdominal ultrasound and ophthalmologic examination were normal. [omicsonline.org]

  Only probands found to have deletion of IGF1R in the r(Jeny15) had short stature in contrast to those with almost normal stature and non-deletion of the gene. [tp.amegroups.com]

• Short Legs

  External inspection revealed (Fig. 1): microcephaly (32cm, 5th centile is 34.2cm); high forehead, low-set, large, abnormally-shaped ears; short thumbs, cone-shaped fingers; short legs, plump feet with were held adducted and extend- ed. [docslide.com.br]

• Cafe-Au-Lait Spots

  On examination we noticed childish facial features, microcephaly and cafe-au-lait spots in significant number and size. Her karyotype result was 46xx r15. [msjonline.org]

  Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). [rarediseases.info.nih.gov]

• Hyperpigmentation

  Based on the frequent observation of patchy hyperpigmentation with the r(15) syndrome, absent hyperpigmentation in cases of distal 15q deletion without a ring chromosome, and the telomeric breakpoint location in our patient indicating no significant deletion [ncbi.nlm.nih.gov]

  @article{d5c4d2b20229488fb67d83d8178a9bc8, title = "A girl with cutaneous hyperpigmentation, caf{\'e} au lait spots and ring chromosome 15 without significant deletion", abstract = "A girl with cutaneous hyperpigmentation, caf{\'e} au lait spots and ring [hungary.pure.elsevier.com]

  Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. ( 15384084 ) TA1mer Z....ndum-Nielsen K. 2004 17 Maternal transmission of a ring chromosome 15. ( 12872812 ) Nikitina N.V....Lurie I.W. 2003 18 A girl with cutaneous hyperpigmentation [malacards.org]

• 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]

• Macula

  […] is characterized by a recognizable phenotype, consisting of distinct facial features, developmental delay, mental retardation, microcephaly, scoliosis and ocular anomalies that include abnormal retinal pigmentation, strabismus, glaucoma and abnormal macula [tp.amegroups.com]

• Suggestibility

  This case support the evidence that the region 15q26.3 is implicated in intrauterine growth retardation and suggests that the 15q critical region implicated in congenital diaphragmatic hernia is localized in 15q26.1-q26.2. [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]

• 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]

• 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]

• Average Intelligence

  Prenatal diagnosis of a female carrier of a familial r(Jeny21) who was of above average intelligence with a normal phenotype; revealed a twin pregnancy with a 46,XX,r(21)/45,XX,-21 karyotype in one fetus [77% r(Jeny21) cells] and a normal 46,XY karyotype [tp.amegroups.com]

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]

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]

Treatment may last for several years. This introductory book covers all aspects of epilepsy, from basic mechanisms of seizures to diagnosis and management, as well as legal and social considerations. [books.google.it]

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]

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]

Our goal is to determine the molecular etiology of the seizures associated with the ring chromosome 14 syndrome. [ring14.org]

(Etiology) Ring Chromosome 15 Syndrome is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). [dovemed.com]

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]

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]

This is consistent with recent epidemiological findings showing no apparent difference between mother-to-offspring and father-to-offspring recurrence of clefts in these two populations. [embryology.med.unsw.edu.au]

[…] 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]

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]

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]

There is nothing the father did (or did not do) to cause it and no way to prevent it. [pwsausa.org]