シュネラージェネティックス 第11号

1 11 . 30 . 1. Dysmorphology .. 18 5 27 .. 30 1. Dysmorphology . 1 .. CFC .. FISH G-band .. 10 1 . 36 22 13 9 34 . CGH . Mb A J Med Genet . 10 .. dysmorphology .. dysmorphology .. 1. Dysmorphology . 2 .. 1 2.. UR-DBMS . QOL . Ke .. dysmorphology .. dysmorphology . dysmorpholog .. 2. 5. 3 . Dysmorphology . 3 .. 1 2 .. 3 6. 15 10 . a a/b 38 .. 4 7. 5 .. 3. Dysmorphology . 8 11.. 9 12. Waardenburg .. 10 13. Prader-Willi de Lange . synophyrs . 4.. 14 17. Beckwith-Wiedemann .. 15 18. Mowat-Wilson . 16 19. Noonan Goldenhar .. 5. Dysmorphology .. 20 21. CHARGE . 30 .. 22.. 23. Pierre Robin . 6.. 24 27.. 25 28.. Prader-Willi . 26 29. Beckwith-Wiedemann .. 7. Dysmorphology .. 30 33. 5 15 Coffin-Lowry .. 31 34. Rubinstein-Taybi Cohen . 32 35.

2 Prader-Willi Aarskog web . 8. 36 39. Apert OPD . 40. 37.. Achondroplasia . 38. 41. Smith Lemli Opitz . 2 3 Y . 9. Dysmorphology .. 42 45. Aarskog . 43 46. Rubinstain-Taybi de Lange . Coffin-Siris . 44 47.. Blaschko line . 10. 99 . 4 .. 2 3 . 48 PWS .. QOL .. Angelman . Angelman AS 1965 . Angelman 3 Happy puppet .. genomic disorder . G- FISH 1987 15q11-13. Prader-Willi Williams AS UBE3A. FISH Sotos Ubiquitin-protein ligase E3A .. 2 .. Prader-Willi . AS OCA . Prader-Willi PWS 1956 . 15 UPD UPD OCA .. 10,000 . 15,000 1 Williams .. Williams . 10 25 1961 Williams . 32 2Mb . ELN . FISH LIMK1 . PWS 70% 15 . FISH PCR . 11. Dysmorphology . MR . MCA . 22 3,000 5,000 MR MR . MCA/MR . 5 10 . SSCR 1p36 . 22q13 1p36 . 5 . TBX1 SSCR .. G-band.

3 29 pit fall . 70 FISH .. de Vries SSCR .. 1 . Sotos . 2 . 2 2 . Sotos Sotos 1964 Sotos . 10,000 20,000 2 2 . 1 2 .. 5q35 NSD1 9 99 . Genomic disorder 6 90 . Sotos NSD1 microarray . Sotos FISH whole genome microarray . NSD1 submicroscopic . Sotos PCR .. 1p36 .. 1p36 .. 4 .. submicroscopic subtelomeric chromosomal . rearrangements SSCR . G-band . FISH . 12. 20 .. VSD . PDA . Prader-Willi .. 9q34 EHMT1 .. 5 .. 1p36 .. 1 . FISH .. 22q13 . Mowat-Wilson .. Hirschsprung . 3 4 SMADIP1. ZFHX1B .. Mowat-Wilson . Mowat-Wilson . 2 3 38 . Phelan . Sotos Fragile . X IQ 25- 60 . submicroscopic . FISH .. arylsulfatase-A ARSA . ARSA 22q13 18 . ARSA FISH ARSA .. SHANK3 . OPD spectrum disorders 9q34 . OPD-spectrum disorders4 . 9q34 Frontometaphyseal dysplasia FMD Melnick- FISH Needles syndrome(MNS) Oto-Palato-Digital syndrome (OPD) type and type.

4 13. Dysmorphology . allelic disorder 12 2001 . OPD- Tartaglia PTPN11 . spectrum disorders4 Filamin A NS . FLNA . FLNA Xq28 FLNA integrin 16 . actin . Noonan .. FLNA loss-of-function periventricular HRAS germline . nodular heterotopia CFC Cardio-Facio-Cutaneous KRAS . germline . OPD-spectrum . disorders FLNA gain-of-function . Robertson 44 . 4 OPD spectrum . disorders RAS KRAS NRAS HRAS ERAS . 25 . OPD-spectrum disorders4 GTP RAS . FMD RAS . RAS .. CFC RAS . MNS BRAF MEK .. Beckwith-Wiedemann . OPD .. 39 Beckwith-Wiedemann BWS . MNS Exomphalos Macroglossia . Gigantism EMG .. Noonan 13,700 .. Noonan NS 1 1 . 43 . 15% BWS . 1963 Noonan . Turner Male Turner .. 1,000 1,500 BWS Heavy-for-Dates . 1 1 . 12 PTPN11 3,800g .. NS 50% .. 1994.

5 14. Brachmann-de Lange . NIPBL . 99% .. 26 .. 2,500 .. BWS .. BWS % 13 .. 17 .. Rubinstein-Taybi .. Rubinstein-Taybi RTS .. 1957 Jack H.. Rubinstein Hooshang Taybi 1963 . 7 . CHARGE . CREB-binding protein CREBBP . FISH Pagon . CHD7 . RTS CHARGE CHARGE . 31 .. 46 C: coloboma of the eye .. H: heart defect .. A: atresia of the choanae MRI .. R: retardation of growth and/or development Cornelia de Lange .. Cornelia de Lange Syndrome CdLS 1933. G: genital and urinary abnormalities 1916 . Brachmann . 15. Dysmorphology . Kabuki .. 1981 . E: ear malformation and/or hearing loss . (CHARGE ear) . 20 .. 11 .. CT /.. Pierre Robin sequence . Robin sequence .. Pierre Robin sequence . 23 .. 22 . Robin sequence 30 40% Stickler . Stickler . 7.

6 COL2A1 2 ) COL11A2 . COL11A1 . Robin sequence .. Robin sequence .. 6 .. Goldenhar .. 19 .. QOL .. 1 2 .. 16. 17. Dysmorphology . 18. 11 2006 18 11 15 .. 346 TEL. 075-257-8541. URL.