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]

• Developmental Delay

  A ring chromosome 7 was found in a 19-month-old girl with microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis. [ncbi.nlm.nih.gov]

  Abstract A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. [unboundmedicine.com]

  Here, we report on a patient who was referred for major in utero growth retardation, severe developmental delay, facial dysmorphism, cleft palate, and hypospadias. The karyotype showed a small SRC in mosaic. [figshare.com]

• Anemia

  We report a case of a 76-year-old man who presented with chronic, transfusion-dependent anemia. Peripheral blood smear analysis revealed anisocytes, mild leukopenia, and occasional hypersegmented eosinophils. [ncbi.nlm.nih.gov]

  The patient was diagnosed as MDS-refractory anemia excess blast type 2 (RAEB-2) (IPSS): 3, high risk). Acute myeloid leukemia (AML) induction type- chemotherapy was initiated. [eastjmed.org]

  […] delay–PMDDWilms tumor46,XX,r(11)(p15.5q25)Present case report5 years/FPrecocious puberty, severe hirsutism amenorrhea, androgenic alopecia, clitoromegaly, diabetes, and insulin resistance–Short statureFDPMDDVentricular septal defect, severe scoliosis, anemia [edmcasereports.com]

  A complete blood count and differential diagnosis showed anemia and circulating blasts. [hoajonline.com]

• Multiple Congenital Anomalies

  […] associated with ring chromosome 7. ( 1746606 ) Biesecker L.G....Glover T.W. 1991 27 Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. ( 2395166 ) 1990 28 Ring chromosome 7: report of the fifth case. ( 2189730 ) Caramia [malacards.org]

  Multiple congenital anomalies associated with a partially ring-shaped chromosome probably derived from chromosome No. 18 in man. Nature, 202 : 829, Jacobsen, P. ( 1966 ). [cambridge.org]

  Taiwan J Obstet Gynecol 51: 71-76. van der Veken LT, Dieleman MM, Douben H, van de Brug JC, van de Graaf R, et al. (2010) Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. [omicsonline.org]

  PubMed View Article Google Scholar Koiffmann CP, Diament A, de Souza DH, Wajntal A: Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. [molecularcytogenetics.biomedcentral.com]

• Refractory Anemia

  The patient was diagnosed as MDS-refractory anemia excess blast type 2 (RAEB-2) (IPSS): 3, high risk). Acute myeloid leukemia (AML) induction type- chemotherapy was initiated. [eastjmed.org]

• Vietnamese

  The Vietnamese mother was 23 at delivery, and the Taiwanese father was in his 40 s. [molecularcytogenetics.biomedcentral.com]

• Respiratory Distress

  distress * Small penis * Growth retardation * Mental retardation * Feeding difficulty * Failure to thrive Diagnosis signs and symptoms of Chromosome 7 ring syndrome may vary on an individual basis for each patient. [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]

  The baby died of respiratory distress resulting from cardiac failure and renal impairment at 10 weeks after birth. Autopsy was not done. 3. [hindawi.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 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]

• High Arched Palate

  This consists of a high, broad nose, posteriorly rotated ears, high-arched palate, and short philtrum. These facies coupled with expressive language delay should prompt genetic testing for duplication of the WBS region. [pediatricneurologybriefs.com]

  Facial dysmorphism including hypotelorism, midface hypoplasia and high arch palate were noted. Choanal stenosis was suspected because of noise nasal breathing since birth. [molecularcytogenetics.biomedcentral.com]

  In addition, certain patients present variable features, such as triangular face, high frontal hairline, high arched palate, clinodactyly and asymmetry of limbs ( 4 ). [spandidos-publications.com]

  At the age of 12 days was noted thin long hands and fingers, thin long feet and toes, broad nasal bridge, epicanthal folds, telecanthus, retrognathia, high arched palate, and dysplastic ears with prominent helix were present. [ssmc-tl.com]

• 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]

  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 [karger.com]

• Cafe-Au-Lait Spots

  Abnormal cerebellum morphology Abnormality of the cerebellum Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly [ more ] 0001317 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Cafe-au-lait [rarediseases.info.nih.gov]

  au lait spotMicrocephaly, short 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 [edmcasereports.com]

• Long Arm

  FISH with subtelomeric probes showed the presence of normal short and long arm subtelomere signals on the normal and the del (7), but not the ring 7. [ashg.org]

  We report a girl with severe retardation of expressive speech development carrying a small, supernumerary ring chromosome derived from the proximal region of the long arm of chromosome 7. The r(7) chromosome is present in 50% of lymphocytes. [ncbi.nlm.nih.gov]

  This is the first patient carrying a mosaic neocentric SRC derived from the long arm of chromosome 7. Our study emphasizes the need to combine different techniques and to use adapted bioinformatic tools for low-mosaicism marker identification. [figshare.com]

  Klinefelter syndrome - male a male missing part of the long arm of chromosome 7 a female with trisomy 21 Down syndrome 46, XY t (7;9)(p21.1;q34.1) a male with a translocation between the short arm of chromosome 7 at band 21.1 and the long arm of chromosome [quizlet.com]

  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]

• Small Head

  Symptoms * Small head * Craniosynostosis * Prominent forehead * Midfacial dysplasia * Small ears * Low-set ears * Widely spaced eyes * Upward slanting space between eyelids * Broad nasal root * Cleft lip * Cleft palate * Deep palmar creases * Deep plantar [checkorphan.org]

  […] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Motor delay 0001270 Narrow mouth Small mouth 0000160 Prominent crus of helix 0009899 Prominent nasal bridge Elevated [rarediseases.info.nih.gov]

• Hypertelorism

  Humangenetik DOI: 10.1007/BF00281730 We report a patient with ring chromosome 18, whose clinical symptoms are characterized by dystrophy, short stature, psychomotorical retardation, microcephalus dyscrania, mid-face dysplasia with carpshaped mouth, hypertelorism [semanticscholar.org]

  Such abnormalities may include an unusually small head (microcephaly), closely or widely set eyes (ocular hypotelorism or hypertelorism), downslanting eyelid folds (palpebral fissures), and/or other findings. [rarediseases.org]

  At age of 11y hypertelorism and down slanting palpebral fissures; IQ scores were around 80 and school attendance was difficult but possible. [ssmc-tl.com]

  […] al. 1994) Criteria for diagnosis of CES include; Ocular coloboma of the iris and or retina Anal atresia (with or without fistula) Preauricular skin tags and pits Heart defects (especially total anomalous pulmonary venous return Dysmorphic features (hypertelorism [en.wikibooks.org]

  Nevertheless, most cases share some characteristics such as: mental retardation, growth deficiency, mild microcephaly, facial asymmetry, hypertelorism, abnormal palpebral fissures, small ears, limb and skeletal anomalies, and skin lesions, including nevus [molecularcytogenetics.biomedcentral.com]

• Psychomotor Retardation

  retardation, microcephalus dyscrania, mid-face dysplasia with carpshaped mouth, hypertelorism, epicanthus, dysplasia of the external ears, stenosis of the ear canals, hearing loss, spindle-shaped fingers, hypotonia of the muscles, congenital heart defect [semanticscholar.org]

  triangular face and mild psychomotor retardation. [journals.lww.com]

  retardation, myoclonic syndrome and extreme photosensitivity. [thieme-connect.com]

  Speech delay and psychomotor retardation was noted during clinical evaluation at thirteen months old. The body weight of 5.4 Kg, height of 61 cm and head circumference of 35.2 cm still fell far below the third percentile on growth curve. [molecularcytogenetics.biomedcentral.com]

  The syndrome may also be associated with varying degrees of psychomotor retardation and mental retardation; however, as noted earlier, some affected individuals may have normal intelligence. [rarediseases.org]

• 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(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]

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]