No.30
Contents
1. KS 1 Wikstrom AM et al J Clin Endocrinol Metab 2004 89 2263 22702. KS KS KS 2 3 4 5
3. B FSH 6mL 4mL X 4 KS
4. KS KS ICSI KS KS KS KS
5. 0 3 Abnormal SH H for age 0 63 Children 90 0 62 3 Adults 88 0 61 059 0 58 0 57 3 0 56 3 0 55 3 8 0 54 3 0 53 0 52 0 51 4 0 50 4 0 49 4 0 48 4 2 3 4 S 6 7 8 9 1O age year 1213 1415 16 17 18 19 Gerver WJ Bruin R Paediatric morphometrics a reference manual 2nd extended ed Universitaire Pers Maastricht Maastricht 2001 1 SHOX 18 SDS SDS 2 3 SD SDS CU 5 Madelung
6. KS 1ICSI 60 KS ICSI
7. X S OX Madelung SS S OX ISS 2 15 SHOX SDS E i 2 2 SDS 2 3 2 22 SHOX S OX 5 0 1Unidade de Endocrinologia do Desenvolvimento Laboratorio de Hormonios e Genetica Mol
8. S OX S OX 2 6 Mb X Y X Leri Weill dyschondrosteosis LWD SO Langer Madelung LWD 50 90 SZ OX F WD SDS SDS 2 1 SDS Madelung 2
9. IDepartment of Reproduction and Growth Pediatric and Adolescent Unit Arcispedale St Anna Ferrara Italy General Practitioner Ferrara Italy 11 1 2 12 13 15 37 14 24 69 DNA Horne 21 ICST TESE TESE ICSI
10. S OX 1 GH by 2 5 SD 75 B 2 0 SD 1 0 SD 60 1 0 0 SD 55 1 1 0 SD 2 0 SD 50 1 3888 40 35 30 25 20 155 10 05 00 95 1 90 85 1 80 1 ZS 70 65 1 60 GnRHa eo 55 50 1 T T T T T T T T T T T T T T T 1 12 3 4 5 6 7 8 9 05 2 3 4 5 6 age year A 10 1 4 SD 176 cm SDS 156 7 cm 2 5 SD B 8 2 0 SD 148cm 152 8 cm 1 6 SD
11. 1700BZZ004796 74 70394000 BC Bmg Growjector 791 0395 2131 1 659 0021 3 19 2010 12 19AFBZX00104000 74 JMDN 70391000 BC Bmg BD 3
12. 202 p Arg195X DNA Z SO LWD GH S OX S OX 2 5 SD I A 2 0 SD 180 1 0 SD 175 0 0 SD 0 1 0 SD 160 2 0 SD 155 2 5 SD 150 145 138 E1301 8 125 1f5 8 110 105 100 95 90 85 80 75 70 65 60 1 55 50 T T T T T 1 T 18 T T T T T T T T 1 1 2345678 9101112131415161718 age year 2 S OX 2 GH S OX
13. 1 UPD UPD 2 UPD 2 1 2 3 UPD mat 7 SRS 2 7p112 p13 CZg70 Gr610 Cp70 GRBI0 SRS SRS
14. 1 SRS SRS 11p15 ICR1 UPD 7 mat 50 UPD mat 5 68 82 34 78 40 22 37 39 20 5 31 34 76 59 88 34 22 55 9 15 55 9 14 14 0 7 Kotzot D Schmitt S Bernasconi F Robinson WP Lurie IW Ilyina H Mehes K Hamel BC Otten BJ Uniparental disomy 7 in Silver Russell syndrome and primordial growth retardation Hum Mol Genet 1995 4 583 587 Netchine 1 Rossignol S Dufourg M N Azzi S Rousseau A Perin L Houang M Steunou V Esteva B Thibaud N Demay MCR Danton F Petriczko E Bertrand AM Heinrichs C Carel JC Loeuille G A Pinto G Jacquemont ML Gicquel C Cabrol S Le Bouc Y 11p15 imprint
15. FSH LH 12 14 FSH LH B AMH 1 E gt Ez KS Ez
16. GH 50 pg kg SDS 33 0 2 21 0 2 2 5 9cm ISS LWD GH 4 7 E SDS 1 1 0 7 GH S OX GH SDS 0 6 0 4 12 04 SDS 0 9SD 2 Madelung
17. Silver Russell CR SHOX Short stature Caused by Isolated SHOX Gene Haploinsufficiency Update on the Diagnosis and Treatment Mariana F A Funari MD Minan Y Nishi MD IvoJ P Arnhold MD Berenice B Mendonca MD Alexander A L Jorge MD 1 S OX 1 S OX mesomelic dysplasia Leri Weill Dyschondrosteosis LWD LWD MI
18. Cp G DNA UPD Prader Wi PWS Angelman AS PWS AS 15 q11 q13 PWS AS 15 UPD UPD 15 pat PWS UPDGd5 mat AS TNDM 6 maternal UPD 14 syndrome UPD 14 mat Temple syn drome paternal UPD 14 syndrome Beckwith Wiedemann syndrome BWS 11
19. KS 97 10 KS 50 KS Wikstrom 10 1 14 KS 50 14 7 KS
20. 40 70 TESE cryoTESE LH FSH B AMH KS 25 10 KS 1 KS TESE MicroTESE
21. 1Tnstitute of Human Genetics RWTH Aachen Germany Children s Hospital University of Greifswald Germany 3Tnstitute of Human Genetics University of Greifswald Germany Children s Hospital University of Tiibingen Germany Cp70 7 PEGI1 MEST CPA4 COPC 7 SRS SRS 11 p15 11p15 2 ICR1 ICR2 ICR1 79 7C7 2 ICR2 KCNQI KCNQIOTI CDKNIC 57 Kip2 44 SRS ICR1 ICR1 ICR1 7 CTCF
22. _ Silver Fussel 6 Genetic and Epigenetic Hindings in Silver Russell Syndrome Matthias Begemann MGc Sabrina Spengler MGc Carmen Schroder MD Ulrike KordaR MD Gerhard Binder MD Thomas Eggermanr PhD MSc 100 DNA mRNA non coding RNA
23. CTCF 79 7 SRS 11p15 11p15 methylaton specific multiplex hgation dependent probe amplification MS MLPA 11p15 UPD 11p15 SRS 11p15 9 79 11p15 SRS 11lp15 UPD mat A SRS 1
24. 659 0021 3 19 960 2152 1 2010 4 3 OT 000 0 0000 OZ MED 102 0074 42 15 MediArt Ltd 2011 8 2
25. Silver Russell syndrome SRS 7 11 SRS SRS OMIM 180860 SRS body mass index BMI 50 SRS UPD 7 mat 7 UPD matl SRS 4 10 UPD 1 8 UPD 3 3 3 1 UPD UPD UPD
26. 2 KS KS KS
27. ICR1 UPD 1 SRS SRS 143 SM 388 ICR1 CTCF 7GF2 79 7C7 64 92 91 59 45 69 2 13 51 60 30 77 57 CTCF SRS GF2 ZGF2 7GF2 7 SRS 11p15 UPD mat SRS
28. I ji ellatelW2aite gYe ejj4 e a e eIei4 a e e7eJ 37 7 6 7e l0laa lt N e 0je e aal al 610 Editor in Chief Zvi Laron MD PhD Hon Associate Editor Mitchell E Geffner MD ait olej eli elirog i leolelaWelalol solojiite ciohM Colalel lt oWKorialte MID PER published by Y S MEDICAL MEDIA Ltd PATRICRNDO CORINA GR SHOX 1 Mariana F A Funari MD Mirian Y Nishi MD Ivo J P Arnhold MD Berenice B Mendonca MD Alexander A L Jorge MD Silver Russel 2 Matthias Begemann MSc Sabrina Spengler MSc Carmen Schroder MD Ulrike Korda 3 MD Gerhard Binder MD Thomas Eggermann PhD MSc 3 Vincenzo De Sanctis MD Sara Ciccone MD PER Volume 8 No 2 amp Supplement 1 SHOX
29. ecular LIM 42 Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo FMUSP Sao Paulo Brazil 2Unidade de Endocrinologia Genetica LIM 23 Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo FMUSP Sao Paulo Brazil 2 3 SOX S OX 3 S O G SOX FISH MLPA PCR SOX S OX S OX 1 3
30. ing center region 1 loss of methylation is a common and specific cause of typical Russell Silver syndrome clinical scoring system and epigenetic phenotypic correlations J Clin Endocrinol Metab 2007 92 3148 3154 2 SRS SRS 11p15 ICR1 44 6 ICR1 7 UPD 7 mat gt 4 5 11p15 1 2 UPD 11 mat 10 1 Fertility Preservation in Adolescents with Klinefelter s Syndrome Vincenzo De Sanctis MD Sara Ciccone MD KS 46 XY X 1 47 XXY 80 9 1 KS 660 i
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