Ring chromosome 7 presenting with intrauterine growth restriction and multiple anomalies. [researchoutput.ncku.edu.tw]

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]

• Fishing

  FISH with whole chromosome 7 paint confirmed the origin of the ring 7 and the del(7) and ruled out an exchange with other chromosome. [ashg.org]

  The combination of FISH, M-FISH and array-CGH was necessary for a complete characterization of this SRC. M-FISH revealed that the SRC originated from chromosome 7. [figshare.com]

  High resolution G-banding chromosome and fluorescence in situ hybridization (FISH) demonstrated that our patient lost this region during ring formation. [ncbi.nlm.nih.gov]

  Dual-color FISH images were digitally generated using the Isis FISH imaging software (MetaSystems). 300 cells were scored for each sample. FISH analysis showed a r(21) in 77% of examined cells and a monosomy 21 in 23% (300 cells investigated). [omicsonline.org]

• Short Stature

  Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities. [ncbi.nlm.nih.gov]

  stature, low weightClinodactylyPMDD–46,XX,r(11)(p15q25); chromosome instability; and father with normal karyotypePatient 2: 33 years/F (mother of patients nos 1 and 3)– Cafe au lait spotMicrocephaly, short stature–Low IQ–46,XX,r(11)(p15q25); chromosome [edmcasereports.com]

  Homepage Rare diseases Search Search for a rare disease Disease definition Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability [orpha.net]

  National Center for Advancing Translational Sciences Summary Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological [rarediseases.info.nih.gov]

• Fever

  After 12 days of chemotherapy, he presented fever and hemorrhagic suffusions (ecchymosis and petechiae), vomit and diarrhea. [htct.com.br]

  […] q32.1) Partial trisomy 1q (q42) and partial monosomy 12p Partial trisomy 22q (q10qter) Partial trisomy 2p Partial trisomy 3p Partial trisomy 4p Partial trisomy 4q Partial trisomy 5 Partial trisomy 8p Partial trisomy19q PAX3 and 2q36.1 deletion Periodic Fever [geneticalliance.org.au]

  Upon arrival to SBUH, the patient developed a neutropenic fever and her blood cultures were found to be positive for Staphylococcus hemolyticus. [hoajonline.com]

  CASE REPORT A 61-year-old woman was registered at Pedro Ernesto University Hospital (HUPE) in December 2010, with a three-month history of dizziness, precordial pain and adynamia, a weight loss of 5.5 kg and fever. [scielo.br]

  Harlequin Syndrome Harrod Doman Keele Syndrome Hashimoto-Pritzker Syndrome Haspeslagh Fryns Muelenaere Syndrome HEART AND BRAIN MALFORMATION SYNDROME Hecht Scott Syndrome Hecht Syndrome HELIX syndrome HELLP syndrome hemolytic-uremic syndrome + hemorrhagic fever [rgd.mcw.edu]

• Pain

  Syndrome Cohen-Gibson Syndrome cold-induced sweating syndrome + Cole-Carpenter syndrome + Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome compartment syndrome + complex regional pain [rgd.mcw.edu]

  Bone pain is not common, but has been reported in the sternum and long bones [ 1 ]. Approximately 50% of all AML patients will have cytogenetic abnormalities [ 1 ]. [hoajonline.com]

  CASE REPORT A 61-year-old woman was registered at Pedro Ernesto University Hospital (HUPE) in December 2010, with a three-month history of dizziness, precordial pain and adynamia, a weight loss of 5.5 kg and fever. [scielo.br]

• Sepsis

  She completed Cycle 1 of decitabine but had multiple complications, including pneumonia requiring intubation and sepsis, and was discharged to home hospice. [hoajonline.com]

• Failure to Thrive

  […] to thrive Diagnosis signs and symptoms of Chromosome 7 ring syndrome may vary on an individual basis for each patient. [checkorphan.org]

  […] growth failure is more common among patients with large ring chromosomes, than among those with small ones (Kosztolanyi 1987). [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]

• Hypotension

  Anomalies Syndrome Stuve-Wiedemann Syndrome subclavian steal syndrome sudden infant death syndrome + Sudden Unexpected Nocturnal Death Syndrome Summitt Syndrome SUNCT Syndrome superior mesenteric artery syndrome + Superior Vena Cava Syndrome supine hypotensive [rgd.mcw.edu]

• Short Arm

  Eighty-five-percent of the analyzed cells showed a ring chromosome composed of both the long and short arms: r(7)(p22q36). In the remaining metaphases, the ring was composed of only the short arm: r(7)(p22q10). [ncbi.nlm.nih.gov]

  Each chromosome has a short arm designated as “p,” a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). [rarediseases.org]

  No loss of chromosomal material in the ring; FISH revealed that both the short-arm and long-arm specific subtelomeric regions for 11p and 11q were preserved in the RC and parents with normal karyotype (10) Neonatal/M–––FD, dysplastic featuresGeneralized [edmcasereports.com]

  Schomig-Spingler M, Schmid M, Brosi W, Grimm T (1986) Chromosome 7 short arm deletion, 7p21→pter. Hum Genet 74:323–325 Google Scholar 7. Zackai EH, Breg WR (1973) Ring chromosome 7 with variable phenotypic expression. [link.springer.com]

• Suggestibility

  It appears that in patients presenting with growth retardation and pigmented skin lesions, with or without mental retardation, a cytogenetic study is indicated to search for ring chromosome 7, which is probably more frequent than suggested by the literature [ncbi.nlm.nih.gov]

  This is the first published case of a class II analphoid chromosome derived from chromosome 7, suggesting that this region may possibly be a new site for neocentromere formation. [ashg.org]

  Abstract References Citations Supplementary Data Article Media Metrics Suggestions Velagaleti GVN, Jalal SM, Kukolich MK, Lockhart LH and Tonk VS. [ingentaconnect.com]

• 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]

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]

Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT. [books.google.de]

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]

The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment. [socialstyrelsen.se]

Anti-epileptic drugs are the mainstay and first line of treatment; however no one drug or treatment has been shown to be better than others. Patients are frequently exposed to multiple anti-epileptic drugs. [epilepsy.com]

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]

However, according to Hasle et al.10 and Blink et al.,11 monosomy 7 and del(7q) are different in prognosis, both in DS and non-DS patients, with the correlation of monosomy 7 being considered a poor prognosis. [htct.com.br]

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]

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 :229-35. | Article | PubMed [hoajonline.com]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

In accordance with its purpose as a scientific research platform, the GAZEL cohort is permanently open to epidemiologic research teams. [re3data.org]

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]

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]

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]