U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

Show details

Roberts syndrome

Roberts Syndrome
  • Benzacken B, Savary J B, Manouvrier S, Bucourt M, Gonzales J.: Prenatal diagnosis of Roberts syndrome: two new cases. Prenat. Diag. 16:125-130, 1996. [PubMed: 8650122]
    Three cases, two of them in one family, are described.
  • de Ravel T J L, Seftel M D, Wright C A.: Tetra-Amelia and splenogonadal fusion in Roberts syndrome. AJMG 68:185-189, 1997. [PubMed: 9028456]
    46,XX,pcd
    The infant died few hours after birth. Mother was 18 years old with no other teratogenic history. The infant had a score of 7 for the severity of RS.
    Premature centromere separation was present in about 50% of metaphases with C group chromosomes being most common followed by the acrocentrics.
    Index Terms: Tetra-Amelia,Splenogonadal fusion
  • Feingold M: History of C-patient with SC-Roberts/pseudothalidamide syndrome. AJMG 43:898-899, 1992. [PubMed: 1642282]
    Hermann J, Feingold M, Tuffli G A, Opitz J M: "A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the ""pseudothalidomide"" or ""SC-syndrome""." Birth Defects: OAS V(3):81-89, 1969.
  • Fryns J P, Kleczkowska A, Moerman Ph, Van den Berghe K, Van den Berghe H: The Roberts tetraphocomelia syndrome: identical limb defects in two siblings. Ann. Genet. 30:243-245, 1987. [PubMed: 3501269]
    MIM#: 268300
  • Gerkes E H, van der Kevie-Kersemaekers A-M F, Yakin M, Smeets D F C M, van Ravenswaaij-Arts C M A.: The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. Europ. J. Med. Genet. 53: 40-44, 2010. [PubMed: 19878742]
    A young girl with RS is presented.
    In this era of array CGH etc, these authors recommend performing routine karyotyping in children with pre- and postnatal growth retardation in combination with microcephaly or shortening of the long bones, especially the radius, if the array results prove to be normal.
    MIM#: 268300
    Index Terms: Cohesinopathies,SC phocomelia
  • German J: Roberts'' Syndrome. I. Cytological evidence for a disturbance in chromatid pairing. Clin. Genet. 16:441-447, 1979. [PubMed: 527250]
    Premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences, is displayed.
  • Gollop T R, Eigier A, Hauschild D, Neto J G, Moron A F.: Prenatal ultrasound diagnosis of Roberts syndrome at 21 weeks. Braz. J. Genet. 13:607-612, 1990.
  • Gruber A, Rabinerson D, Kaplan B, Ovadia Y: Prenatal diagnosis of Roberts syndrome. Prenat. Diag. 14:511-512, 1994. [PubMed: 7524059]
  • Hirschhorn K, Kaffe S: Prenatal diagnosis of Roberts syndrome. Prenat. Diag. 12:976, 1992. [PubMed: 1494554]
    Stioui S, Privitera O, Brambatti B, Zuliani G, Lalatta F, Simoni G: First-trimester prenatal diagnosis of Roberts syndrome. Prenat. Diag. 12:145-149, 1992. [PubMed: 1553361]
    3 out of 6 cells showed premature centromere separation (DA-DAPI stained).
    MIM#: 268300
  • Holmes-Siedle M, Seres-Santamaria A, Crocker M, Hall J G, Crouchman M: A sibship with Roberts/SC phocomelia syndrome. AJMG 37:18-22, 1990. [PubMed: 2240038]
    One of the three sibs survived to age 9 years.
    MIM#: 268300
  • Keppen L D, Gollin S M, Seibert J J, Sisken J E: Roberts syndrome with normal cell division. AJMG 38:21-24, 1991. [PubMed: 2012128]
  • Krassikoff N E, Cowan J M, Parry D M, Francke U: Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. AJHG 39:618-630, 1986. [PMC free article: PMC1684051] [PubMed: 3788975]
    Patient V. W.
    MIM#: 268300
  • Leonard P, Rendle-Short J, Skardoon L: Roberts''-S C Phocomelia syndrome with cytogenetic findings. Hum. Genet. 60:379-380, 1982. [PubMed: 7106776]
  • Louie E, German J: Roberts'' syndrome. II. Aberrant Y-chromosome behavior. Clin. Genet. 19:71-74, 1981. [PubMed: 7193102]
    Yq chromatids were found to separate in an aberrant manner.
  • McDaniel L D, Prueitt R, Probst L C, Wilson K S, Tomkins D, Wilson G N, Schultz R A.: Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. AJMG 93:223-229, 2000. [PubMed: 10925387]
    McDaniel L D, Tomkins D J, Stanbridge E J, Somerville M J, Friedberg E C, Schultz R A.: Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. AJHG 77:132-139, 2005. [PMC free article: PMC1226185] [PubMed: 15887093]
    A specific region capable of rendering phenotypic correction in patients with Roberts syndrome (RS) has been identifed and it maps to 8p21.
    A Sudanese boy was diagnosed with RS.
    MIM#: 268300
    Index Terms: RS
  • Otano L, Matayoshi T, Gadow E C.: Roberts syndrome: first-trimester prenatal diagnosis. Prenat. Diag. 16:770-771, 1996. [PubMed: 8878291]
    It appears that ultrasound examinations and cytogenetic characteristic of premature centromere separation are good indicators for prenatal diagnosis.
  • Petrinelli P, Antonelli A, Marcucci L, Dallapiccola B: Premature centromere splitting in a presumptive mild form of Roberts syndrome. Hum. Genet. 66:96-99, 1984. [PubMed: 6698562]
  • Pfeiffer R A, Zwerner H: The Roberts syndrome. Report of a case without anomaly of the centromeric region. Monat. Kinderheil. 130:296-298, 1982. [PubMed: 7110148]
  • Robins D B, Ladda R L, Thieme G A, Boal D K, Emanuel B S, Zackai E H: Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with charateristic manifestations. AJMG 32:390-394, 1989. [PubMed: 2658590]
    MIM#: 268300
  • Romke C, Froster-Iskenius U, Heyne K, Hohn W, Hof M, Grzejszczyk G, Rauskolb R, Rehder H, Schwinger E: Roberts syndrome and SC phocomelia. A single genetic entity. Clin. Genet. 31:170-177, 1987. [PubMed: 3568444]
    It is concluded on the basis of three patients and previously published cases that these two conditions are genetically single entity.
    MIM#: 268300
  • Sabry M A.: Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. Hum. Hered. 45:241-242, 1995. [PubMed: 7558058]
    Sinha A K, Verma R S, Mani V J: Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review. Hum. Hered. 44:121-126, 1994. [PubMed: 8039795]
  • Satar M, Atici A, Bisak U, Tunali N: Roberts-SC phocomelia syndrome: a case with additional anomalies. Clin. Genet. 45:107-108, 1994. [PubMed: 8004795]
  • Tomkins D J: Premature centromere separation and the prenatal diagnosis of Roberts syndrome. Prenat. Diag. 9:450-452, 1989. [PubMed: 2668921]
    Tomkins D J, Allingham-Hawkins D J: Similarities between Roberts syndrome and Fanconi anemia suggest a possible genetic relationship. AJHG 51:A118, 1992.
    Tomkins D J, Hunter A, Roberts M H: Cytogenetic findings in Roberts-SC phocomelia syndrome(s). AJMG 4:17-26, 1979. [PubMed: 495649]
    Tomkins D J, Sisken J E: Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellullar basis for the phenotypic characteristics? AJHG 36:1332-1340, 1984. [PMC free article: PMC1684655] [PubMed: 6517054]
  • Van Den Berg D, Francke U: Roberts syndrome: a review of 100 cases and a new rating system for severity. AJMG 47:1104-1123, 1993. [PubMed: 8291532]
    Study of 100 cases.
    MIM#: 268300
  • Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs E W, Inui K, Joenje H.: Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nature Genet. 37:468-470, 2005. [PubMed: 15821733]
    MIM#: 268300
    Index Terms: ESCO2
  • Wenger S L, Blatt J, Steele M W, Lloyd D A, Bellinger M, Phebus C K, Horn M, Jaffe R: Rhabdomyosarcoma in Roberts syndrome. Cancer Genet. Cytogenet. 31:285-289, 1988. [PubMed: 3349442]
  • Zergollern L, Hitrec V: Four siblings with Roberts syndrome. Clin. Genet. 21:1-6, 1982. [PubMed: 7067161]
    Zergollern L, Hitrec V, Cajkovac V, Kovacevic S, Banic I: Three sibs with tetraphocomelia of Roberts Syndrome. Lij. Vjes. (Yugoslavia) 97:519-522, 1975. [PubMed: 1223582]
    A family with one female and three male children with Roberts syndrome is described. Chromosome changes were found in the patients.
    Chromosome abnormality first described in this condition by Freeman et al, was confirmed by these authors in the third child.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106204
Contents

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...