We have shown that collagen type VI, alpha 2 (COL6A2,) S100 protein, beta polypeptide (neural), (S100B), and D21S44 are present in only one copy in both ring carriers, while CRYA1, CBS, D21S43, D21S42, D21S41, and D21S39 are present in two copies. [ncbi.nlm.nih.gov]

We present perinatal findings and molecular cytogenetic characterization of a prenatally detected sacrococcygeal teratoma associated with mosaic r(21). This is the first report of mosaic r(21) presenting with a fetal sacrococcygeal teratoma. [agris.fao.org]

AB - Nucleolus organizer regions (NORs) are present on the satellite stalks located on the short arms of the acrocentric chromosomes. [nyuscholars.nyu.edu]

• Atrial Septal Defect

  The patient has some Down syndrome characteristics including a high arched palate, a secundum atrial septal defect, and duodenal stenosis, but lacks the typical Down syndrome facial features, nuchal folds, and hand/foot anomalies. [ncbi.nlm.nih.gov]

  Cardiological disorders The most common cardiac abnormalities are: Atrioventricular canal defects. Ventricular septal defect. Isolated secundum atrial septal defects. Isolated persistent patent ductus arteriosus. Fallot's tetralogy. [patient.info]

• Asymptomatic

  Causes - Chromosome 21 ring * Asymptomatic * Eye abnormalities * Facial abnormalities * Mental retardation * Skeletal abnormalities Prevention - Chromosome 21 ring Not supplied. [checkorphan.org]

• Anemia

  Sickle cell anemia is an example. Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder. [icdlist.com]

• Heart Disease

  Case Presentation We reported a 12 years old girl patient with congenital heart disease and distinctive facial features. [molecularcytogenetics.biomedcentral.com]

  The leading causes of death in adults with Down's syndrome are respiratory infections and cardiac causes (including the consequences of congenital heart disease). [patient.info]

  Genetic pre-disposition in multifactorial disorders Conditions such as isolated malformations or common diseases like diabetes or heart disease combine a genetic pre-disposition to develop a disease with other environmental factors that may also contribute [contact.org.uk]

  Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet 1992; 50 : 294–302. 10 Chettouh Z, Croquette MF, Delobel B, Gilgenkrants S et al. [nature.com]

  Cell 48:681-690 Korenberg JR, Bradley C, Disteche CM (1992) Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. [publications.fondationlejeune.org]

• Psychomotor Retardation

  Abstract A psychomotor-retarded infant with minor dysmorphic signs and a karyotype 46,XY,r(21)mat in lymphocytes is reported. The mother is phenotypically normal but shows the same unstable r(21). [ncbi.nlm.nih.gov]

  The patient described here showed the common phenotypic pictures described as monosomy 21 syndrome, such as growth retardation, psychomotor retardation, large saccular ears, prominent nose, high arched palate, and hypertonicity, along with unfamiliar [adc.bmj.com]

  retardation, a ring chromosome G was found in all cells scored. [karger.com]

  Vermeesch, Leuven, Belgium psychomotor retardation; severe developmental delay; no sexual development; short stature, microcephaly; brachycephaly; large nose, behavioral problems; birth was "difficult" - weight 2850g; 21-W- q11.2~ 21.1/ 1-2 ° male/ newborn [ssmc-tl.com]

• Broad Nasal Bridge

  nasal bridge and other facial dysmorphism. [epilepsydiagnosis.org]

  Figure 1: The proband showing curly hair, thin upper lip, broad nasal bridge and tip. Figure 2: Array-CGH analysis showing the complete monosomy of chromosome 21. [omicsonline.org]

  Antimongoloid slant, prominent and broad nasal bridge, large saccular low set ears, high arched palate, micrognathia, and cryptorchidism were noted, but there was no anaemia, jaundice, skin eruption, purpura, lymphadenopathy, or hepatosplenomegaly. [adc.bmj.com]

• Global Developmental Delay

  The patient had severe global developmental delay and was profoundly mentally retarded. Cytogenetic analysis revealed 46,XX,del 21 (q22). [nature.com]

A predisposition to infection in patients with ring chromosome 21 may be explained by hypogammaglobulinaemia and merit treatment with gammaglobulin. [ncbi.nlm.nih.gov]

A predisposition to infection in patients with ring chromosome 21 may be explained by hypogammaglobulinaemia and merit treatment with gammaglobulin. gammaglobulin treatment hypogammaglobulinaemia monosomy 21 syndrome ring chromosome 21 Statistics from [adc.bmj.com]

Treatment for ring chromosome 21 depends on the signs and symptoms present in each person. Last updated: 6/21/2018 [rarediseases.info.nih.gov]

Treatment - Chromosome 21 ring Not supplied. Resources - Chromosome 21 ring Not supplied. [checkorphan.org]

“There still remains a risk, but the findings may lead to the development of breakthrough treatment for chromosomal abnormalities.” [stemcellassays.com]

Prognosis - Chromosome 21 ring Not supplied. Treatment - Chromosome 21 ring Not supplied. Resources - Chromosome 21 ring Not supplied. [checkorphan.org]

Prognosis [ 3 ] The survival of people with Down's syndrome has dramatically increased in the past few decades, largely as a result of improved surgical repair of congenital heart defects. [patient.info]

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]

Epidemiology Incidence Down's syndrome is one of the most common genetic disorders, affecting 1 in 650-1,000 [ 5 ]. The underlying genetic defect is trisomy 21 in 94% of cases. [patient.info]

"Chromosome 21 and down syndrome: from genomics to pathophysiology". Nat Rev Genet. 5 (10): 725–38. doi : 10.1038/nrg1448. PMID 15510164. Antonarakis SE, Lyle R, Deutsch S, Reymond A (2002). [en.wikipedia.org]

Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004; 5 : 725–738. 12 Korenberg JR, Chen XN, Schipper R, Sun Z et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. [nature.com]

[…] retardation * Facial abnormalities * Eye abnormalities * Skeletal abnormalities * Internal organ abnormalities * Asymptomatic Causes - Chromosome 21 ring * Asymptomatic * Eye abnormalities * Facial abnormalities * Mental retardation * Skeletal abnormalities Prevention [checkorphan.org]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

To prevent exonucleolytic degradation, the breakpoint of chromosome 11p15.3 and 11q24.1 were reunited to form a ring, and the 11p15.3-pter fragment recombined with telomeric sequences of 21qter possibly through nonhomologous end joining (NHEJ) that is [molecularcytogenetics.biomedcentral.com]