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]

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

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]

• Increased Susceptibility to Infections

  Abstract An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported. [adc.bmj.com]

• Precocious Puberty

  Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism 149 [books.google.com]

• Rales

  Auscultation revealed respiratory moist rales and an ejection systolic heart murmur (Levine 3/6) at the left sternal border. Neurological examination demonstrated general hypertonicity, hyperactive reflexes, and psychomotor retardation. [adc.bmj.com]

• Dental Caries

  Article / Publication Details First-Page Preview Abstract In the lymphocytes of a girl with microcephalia, hypertelorism, antimongoloid palpebral slant, bilateral cataract, severe dental caries, systolic murmur, back-rotation of kidneys and severe psychomotoric [karger.com]

• Purpura

  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]

• Antimongoloid Slant

  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]

• 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]

• Psychiatric Symptoms

  A formal psychiatric diagnosis could not be established. The behavioural problems and the supposed psychiatric symptoms could be related to her disharmonic social cognitive profile. [ingentaconnect.com]

• Withdrawn

  1 Combined Immunodeficiency with Ring Chromosome 21. ( 29656336 ) 2018 2 Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia. ( 24471893 ) Cetin Z....Berker Karauzum S. 2014 3 WITHDRAWN: Corrigendum to "Ring chromosome 21 presenting [malacards.org]

• Dystonia

  Dystonia associated with chromosomal abnormalities is typically attributed to chromosomal deletions. [ncbi.nlm.nih.gov]

  […] syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. ( 16155419 ) Crombez E.A....Rao N. 2005 16 Dilated ascending aorta in a child with ring chromosome 21 syndrome. ( 15372526 ) Rope A.F....Saal H.M. 2004 17 Dystonia [malacards.org]

• Karyotype Abnormal

  Initially cytogenetics showed a terminal deletion of chromosome 21 with mosaicism for a small ring chromosome 21 as the only apparent karyotypic abnormality: mos 45,XX,-21/46,XX,+r(21) (48%/52%). [ncbi.nlm.nih.gov]

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]