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Russell Silver Syndrome: more detail

Silver-Russell Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by Icon Health Publications, 2004-06-09

Russell-Silver syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

Growth Disorders: Achondroplasia, Dwarfism, Acromegaly, Primordial Dwarfism, Psychosocial Short Stature, Midgetville, Silver-russell Syndrome

lists with details

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Rural Issues. russellsilver syndrome. russell-silver syndrome SupportNetwork-russell-silver syndrome. Home Webmaster Site Map. Disclaimer
http://www.wellspan.org/library/healthguide/SelfHelp/_SearchResults.asp?letter=R
Trisomy 7 Mosaicism
is well established to be associated with severe growth restriction and is foundin approximately 10% of cases with russellsilver syndrome phenotype (Robinson
http://www.medgen.ubc.ca/wrobinson/mosaic/trisomy7.htm

Extractions: chromosomal Mosaicism HOME TABLE OF CONTENTS SEARCH BACKGROUND ... GLOSSARY Chromosome specific Trisomy TRISOMY 7 MOSAICISM Complete trisomy 7 has never been reported in a liveborn child. Trisomy 7 is one of the most common aneuploidies detected on chorionic villus sampling . In general, prenatal detection of trisomy 7 is associated with a good outcome. However maternal UPD 7 is strongly associated with severe growth restriction placenta (CPM) appears to be primarily of mitotic origin, resulting from somatic duplication of chromosome 7. This explains the generally good outcome in the majority of cases. Given the mitotic origin the risk of fetal UPD 7 is low. Kalousek et al (1996) showed that CPM for trisomy 7 with biparental inheritance has no adverse effect on fetal growth. Thus, CVS alone is a poor predictor of pregnancy outcome for trisomy 7. When CVS is combined with DNA studies to reveal the origin of CPM (mitotic or meiotic) and parental origin of the chromosome 7s, a more reliable prediction for pregnancy outcome can be discussed (Kalousek et al, 1996). X Y Monosomy X Triploidy / Tetraploidy Trisomy 7 detected on CVS Sachs et al (1990) reported on 5 cases of trisomy 7 mosaicism. In these cases the percentage of abnormal cells measured on CVS direct studies ranged from 5%-68%. In all 5 cases the pregnancies resulted in a normal outcome.
Connexion
Hum Mol Genet 9(11)158795. 2000. 6, Imprinting of human GRB10 and itsmutations in two patients with russell-silver syndrome. Yoshihashi
http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=GRB10
Connexion
2001. 2, No evidence of dup(7)(p11.2p13) in silverrussell syndrome. 5, Imprintingof human GRB10 and its mutations in two patients with russell-silver syndrome.
http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=RSSL
Nature Publishing Group: Error Page
Original paper. Human EGFR, a candidate gene for the silverrussell syndrome,is biallelically expressed in a wide range of fetal tissues.
http://www.nature.com/doifinder/10.1038/5200179
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Helpline. Rural Issues. russellsilver syndrome. russell-silver syndromeSupport Network-russell-silver syndrome. line. line. Powered
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Russell-Silver Syndrome
russellsilver syndrome. A Medical Medical System. A resource with informationon over 4000 medical topics including russell-silver syndrome.
http://www.bloodandmarrowtransplant.com/medical-terms/03136.htm
Human Genetics - UPD Maternal Chromosome 7
Shuman, C.;Weksberg, R.;Nedelcu, R.;Northey, A.;Scherer, S. (1996)Chromosome 7 uniparental disomy in russellsilver syndrome..
http://www.genes.uchicago.edu/upd/upd7m.html

Extractions: Chromosome 7. The maternal chromosome is shown on the left. An imprinting effect is certain. Annotated UPD Reference List for Maternal Chromosome 7 Eggerding, F. A.;Schonberg, S. A.;Chehab, F. F.;Norton, M. E.;Cox, V. A.;Epstein, C. J. (1994): Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 55( 2): 253-65 Abstract Eggermann, T.;Wollmann, H. A.;Kuner, R.;Eggermann, K.;Enders, H.;Kaiser, P.;Ranke, M. B. (1997): Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 100( 3-4): 415-9 Abstract Kalousek, D. K.;Langlois, S.;Robinson, W. P.;Telenius, A.;Bernard, L.;Barrett, I. J.;Howard-Peebles, P. N.;Wilson, R. D. (1996): Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 65( 4): 348-52 Abstract Kotzot, D.;Schmitt, S.;Bernasconi, F.;Robinson, W. P.;Lurie, I. W.;Ilyina, H.;Mehes, K.;Hamel, B. C.;Otten, B. J.;Hergersberg, M.;et al. (1995): Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4( 4): 583-7 Abstract Langlois, S.;Yong, S. L.;Wilson, R. D.;Kwong, L. C.;Kalousek, D. K. (1995): Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
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GASNet Anesthesiology: Russell - Silver Syndrome
russell silver syndrome - symptoms and caveats
http://gasnet.med.yale.edu/pediatric-syndromes/russell-silver.php
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Genome imprinting as it relates to russellsilver syndrome. Members. Intern Sasaki-san(Tokyo Technical College). Pathogenesis of russell-silver syndrome.
http://web.sc.itc.keio.ac.jp/~kkosaki/

Extractions: $B7DXf5A=NBg3XIB1!>.;y2J0dEA30Mh(J $B?HBN$NN%$l$?It0L$KJ#?t$N@hE70[>o$r$b$D$*;R$5$s$rAm>N$7$F!VB?H/4q7A>I8u72!W$H$h$V>l9g$,$"$j$^$9!#0dEA@-$"$k$$$OHs0dEA@-$N$5$^$6$^$J l9g$K$O!"(J $B$J$I$N4QE@$+$i45 pJs$rDs6!$G$-$k>l9g$,B?$/$"$j$^$9!#@w?'BN8!::$d(J $B0dEA;R?GCG(J $B$H$$$C$?Jd=uE* $B@.D9>c32$N860x$OMM!9$G!"@8$^$l$?;~$+$iGX$,>.$5$/!"$=$N8e$N?HD9$N?-$S$b$f$C$/$j$7$?;R6!$d!"@8$^$l$?8e$K?HD9$N?-$S$,$f$C$/$j$7$?;R6!$J$I!"MM!9$J@.D9%Q%?! <%s$r .$5$/!"$=$N8e$N@.D9$bCY$l$k;R6!$NCf$K(J
R Listing Part 2
russellsilver syndrome (See also GROWTH DISORDERS, SHORT STATURE). russell-silverSupport Group,. Association for Children with russell-silver syndrome,.
http://www.childhealthinfo.com/rindexlist2.htm

Extractions: R Part II RENDU-OSLER-WEBER SYNDROME (See HEMORRHAGIC TELANGIECTASIS, HEREDITARY) RESPIRATORY DISEASES (See LUNGS) RESPIRATORY PAPILLOMATOSIS, RECURRENT Recurrent Respiratory Papillomatosis Foundation, 50 Wesleyan Dr Hamilton, NJ 08690 (609) 258-3943 (fax) mstern@pucc.princeton.edu RESTLESS LEGS SYNDROME Restless Legs Syndrome Foundation, Inc. 4410 19th St. NW Rochester, MN 55901-6624 Fax: (507) 287-6312 e-mail: rlsf@millcomm.com The RLSF is a national non-profit organization. Dedicated to provide information about RLS and other sleep disorders. Website: http://www.rls.org RETINITIS PIGMENTOSA (See also MACULAR DISEASES, STARGARDT, USHER SYNDROME, VISUAL IMPAIRMENTS RP Foundation Fighting Blindness, 1401 Mt. Royal Ave., 4th FL., Baltimore, MD 21217 (410) 255-3936 (fax) Retinitis Pigmentosa International Society for Degenerative Eye Diseases, P.O. Box 900, Woodland Hills, CA 91365 (818) 992-3265 (fax) RP Research FoundationFighting Blindness, C/O Sharon Cole or Margo Alpert 366 Adelaide St W, Ste 704 Toronto, ON CAN M5V 1R9
Endocrinology & Diabetes Unit: Interesting Endocrine Links For Patients & Famili
russellsilver syndrome The MAGIC Foundation russellsilver syndrome; FamilyVillage Factsheet russellsilver syndrome; russellsilver Growth Charts.
http://www.cw.bc.ca/endodiab/endolink.asp

Extractions: Interesting Diabetes Links for Patients and Families General Endocrine/Medical: Growth Disorders: Little People of America ... Little People of British Columbia: A Society for Short Stature Awareness (email only) The Endocrine Society Factsheet: Short Stature The MAGIC Foundation Roche Canada Genentech USA Serono Canada Growth Therapies ... Growth Hormone Deficiency Disorder in Children Thyroid Disorders:
Katalog - Wirtualna Polska
Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce.
http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Russe

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