Symptoma

Chromosome 8-Derived Supernumerary Ring or Marker

Ring Chromosome 8

In the present case we found a paternally derived supernumerary ring chromosome in mosaic with a normal cell line. [molecularcytogenetics.biomedcentral.com]

Clinically, these patients usually present with cat-eye syndrome (260-262). [flandershealth.us]

The present case is the 4th Klinefelter syndrome case with a small super-numerary marker chromosome reported in the literature. The first Klinefelter case with a marker chromosome was presented in 1997 by Manea et al. [caribbean.scielo.org]

Abstract OBJECTIVE We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. [wwww.unboundmedicine.com]

This patient did not present ovarian cancer, and the duplicated genes have not been described in association with POF. The third case presented 2 sSMC associated with repeated abortions [Guediche et al., 2012b]. [karger.com]

  • Atrial Septal Defect

    septal defect Single umbilical artery Anal artresia Dysplastic lumbar and sacral vertebrae Penoscrotal hypospadia Cryptorchism Bifid scrotum Vesico ureteral reflux Trabeculated bladder Radial dysplasia Thumb hypoplasia Preaxial polydactyly VACTERL association [molecularcytogenetics.biomedcentral.com]

    Echocardiography identified an atrial septal defect and a hypoplastic right pulmonary artery. Ultrasound examination of the brain showed enlarged lateral ventricles and gyral flattening. [jmg.bmj.com]

    Some affected infants may also have structural heart (cardiac) malformations that are present at birth (congenital heart defects), such as an abnormal opening in the fibrous partition (septum) that separates the upper chambers of the heart (atrial septal [rarediseases.org]

  • Splenomegaly

    Cryptorchism Bifid scrotum Vesico ureteral reflux Trabeculated bladder Radial dysplasia Thumb hypoplasia Preaxial polydactyly VACTERL association Pancreas fissum Hypertrophy of the lower limb Long tapering fingers Elongated, thin feet Vascular malformations Splenomegaly [molecularcytogenetics.biomedcentral.com]

  • Heart Disease

    The mother was phenotypically and mentally normal and there was no heart disease in the family. The relatively mild phenotypic characteristics of the mother may be due to the low percentage of mosaicism (2%). [molecularcytogenetics.biomedcentral.com]

    Congenital heart disease, deafness and duplications of 3q; refining a new syndrome. J Med Genet 2003; 40 :Suppl1 S60 Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. [ngrl.org.uk]

  • Thumb Hypoplasia

    Our r(18) patient had anal atresia, abnormal lumbar and sacral vertebrae, hypospadia, cryptorchism, bifid scrotum, ureteral flow abnormality, radial dysplasia and thumb hypoplasia on the right upper extremity and preaxial polydactyly of the left hand. [molecularcytogenetics.biomedcentral.com]

    Click Here to Zoom Figure 1: Fetus with cleft lip and palate, low-set ears, depressed nasal bridge, radial club hand, radius aplasia, ulnar hypoplasia, thumb hypoplasia (Case 2). [turkjpath.org]

  • Cryptorchidism

    Cryptorchidism and marker chromosomes:identification of marker chromosomes by fluorescence in situhybridization. Urol Int 55: 2528.Schrock E, Veldman T, Padilla-Nash H, et al. 1997. [docslide.fr]

    Urogenital anomalies, including horseshoe kidneys, double ureter, and cryptorchidism have occasionally been seen. It is not clear whether patients with tetrasomy 18p are born to mothers of increased age. Most of the reported cases are sporadic. [flandershealth.us]

    Chromosomal anomalies in cryptorchidism. Int Urol Nephrol. 1996;28(1):99-102. Amor DJ, Choo KH. Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet. 2002 Oct;71(4):695-714. [ssmc-tl.com]

  • Renal Insufficiency

    The urinary flow problems resulted in frequent infections and some episodes of urosepsis, finally causing chronic renal insufficiency. In his teens he underwent cholecystectomy because of an abnormal gallbladder full of stones. [molecularcytogenetics.biomedcentral.com]

Treatment of localized disease consists in complete surgical excision of the lesion by conventional surgery with wide margins ( 3 cm) or by micrographic Mohs surgery. [actasdermo.org]

Standard Therapies Treatment The treatment of trisomy 5p is directed toward the specific symptoms exhibited by the individual. [rarediseases.org]

At the age of 22 years he had surgical correction of his spine with a Harrington Rod for treatment of severe scoliosis. There were severe pulmonary complications after surgery. [documents.mx]

This obesity-associated genetic syndrome could have implications in the management and treatment of patients with a duplication of 19q12q13.2. [nature.com]

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet 2003; 119A :111-20. Thompson PW, Roberts SH, Rees SM. [ngrl.org.uk]

The prognosis for metastatic cases is very poor with a survival of less than 2 years following detection of metastatic disease. [actasdermo.org]

Retrieved from Abstract Background and Objectives: Small supernumerary marker chromosomes are abnormal findings in prenatal cytogenetic testing and prognosis of an individual carrying a marker chromosome varies with the genomic contents the marker carries [hub.hku.hk]

The only possibility to give a more precise prognosis is by establishing itsorigin. [dokument.tips]

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995; 95 :161–170. 7. Huang B, Crolla JA, Christian SL, et al. [nature.com]

[…] are rare in occurrence supernumerary ring chromosomes often gradually disappear in vivo and only cells with normal karyotype are eventually observed (Michalski K et al. 1993 cited Hoo et al. 1980) not very many reports makes it difficult to predict prognosis [en.wikibooks.org]

They are also summarized in figure 2 where the cases are divided into 4 groups and by gender as follows: (a) unexplained infertility, comprising patients for which no etiology was found or for which details on the symptoms are unavailable; (b) OAT/others [karger.com]

To prevent the interference with cell division most centromeres of the supernumerary ring had to be inactivated. This may explain the loss of the monocentric ring in subsequent cell divisions. [molecularcytogenetics.biomedcentral.com]

Diagnosis, Prevention andTreatment, Milunsky A (ed.). Plenum Press: New York; 115.Jalal SM, Schneider NR, Kukolich MK, Wilson GN. 1990.Euchromatic 16p heteromorphism: first report in NorthAmerica. [dokument.tips]

[…] ring chromosomes it has been demonstrated that the majority of children with rings show a failure to thrive beyond the extent expected from their chromosomal imbalances (Kosztolanyi 1987). suggested that this is due to the mitotic instability of rings, preventing [en.wikibooks.org]

Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive. Early intervention is important to ensure that children with trisomy 5p reach their potential. [rarediseases.org]