Mikrodeletionssyndrome / Mikroduplikationssyndrome Liste
Neuere Erkenntnisse ergaben, dass eine große Zahl klinischer Syndrome aus sog. Mikrodeletionen oder Mikroduplikationen resultiert. Zugrunde liegen bei all diesen klinisch durchaus unterschiedlichen Syndromen molekular das gleiche Prinzip: 1-5 Megabasenpaare sind nur in einer Kopie oder in drei Kopien pro Genom vorhanden. Diese Kopiezahlveränderungen führen aber zu keiner sichtbaren Alteration des Karyotyps, obwohl relativ große Mengen an DNA (Millionen von Basenpaaren) in einem Genom zu wenig bzw. zu viel vorliegen.
Im Folgenden sind Mikrodeletions- und Mikroduplikationssyndrome genannt für die uns Sonden vorliegen – aufgrund der großen Zahl dieser Syndrome können wir hier keine weiterführenden Informationen zu jedem einzelnen Krankheitsbild anbieten.
Mikrodeletionssyndrome / Mikroduplikationssyndrome Liste
Dauer: 5 - 10 Tage (pränatal); bis zu 6 Wochen (postnatal)
Zytogenet. |
Mikro- |
Mikro- |
Referenzen D = Decipher S = Slavotinek, 2008 LL = Lee/Lupski 2006 W = Wessex collection |
1pter-p36.31 |
Microdel. |
- |
D |
1p34.1 |
- |
Microdup. |
Hanemaaijer, 2009 |
1p32.2-p32.3 |
Microdel. |
- |
Mulatinho, 2008 |
1q21.1 |
Microdel. |
Microdup. |
D |
1q21.1 |
Thrombocytopenia- |
- |
D |
1q32.2-q41 |
Van der Waude- |
- |
Wong, 2001 |
1q41-q42 |
Microdel. |
- |
S |
1q44 |
Corpus callosum agenesie Microdel. Syndrom |
- | van Bon, 2008 |
2p24.3 |
Feingold |
- |
W |
2p21 |
Hypotonia-Cystinurea- |
- |
W |
2p21 |
Holoprosencephaly |
- |
W |
2p15-16.1 |
Microdeletion |
- |
D |
2q11.2 |
Microdel. |
- |
Steichen- Gersdorf, 2008 |
2q13 |
Nephronophthisis |
- |
W |
2q22.3 |
Mowat-Wilson |
- |
W |
2q23.1 |
Microdel. |
- |
Jaillord, 2008 |
2q23.3-q24.1 |
Microdel. |
- |
Lybaek, 2009 |
2q31.1 |
Synpolydactyly 1 |
- |
W |
2q33.1 |
Microdel. |
- |
D |
2q37 |
Microdel. |
- |
D |
3p25-p26 |
Distal 3p |
- |
W |
3p25-p26 |
Von Hippel |
- |
W |
3p21.31 |
Microdel. |
- |
Haldeman- Englert, 2008 |
3p14.1-p13 |
Microdel. |
- |
Pariani, 2009 |
3q13.11-q13.12 |
Proximal 3q |
- |
Simovich, 2008 |
3q23 |
Blepharophimosis, |
- |
Chandler, 1997 |
3q24 |
Dandy-Walker- |
- |
W |
3q27.3-q29 |
Microdel. |
- |
Pallazzon, 2009 |
3q29 |
Microdel. |
Microdup. |
D |
4pter-p16.3 |
Wolf-Hirschhorn-Syndrom (WHS) |
- |
D |
4q21.1-q21.3 |
Microdel. |
- |
W |
4q22.1 |
Parkinson |
- |
LL |
4q25 |
Rieger |
- |
W |
5p15.2-p15.33 |
Cri-du-Chat- |
- |
D |
5p13.2 |
Cornelia de Lange |
- |
W |
5q13.2 |
Spinal muscular |
- |
LL |
5q14.3 |
Microdel. |
- |
Le Meuer, 2009 |
5q14.3-q15 |
Microdel. |
|
Engels, 2009 |
5q22.2 |
Familial |
- |
D |
5q23.2 |
Adult-onset |
- |
D |
5q35.1 |
- |
Pseudotrisomy 13 |
Koolen, 2006 |
5q35.1 |
Microdel. |
- |
Baekvad- Hansen, 2006 |
5q35.2 |
Parietal Foramina |
- |
Wilkie, 2000 |
5q35.2-q35.3 |
Sotos- |
Microdup. |
D/ Kirchhoff 2007 |
6p25 |
Microdel. |
- |
D |
6p21.3 |
Renal |
- |
W |
6q16.2 |
Prader-Willi like |
- |
Faivre, 2002 |
6q24.2 |
- |
Microdup. |
Mackay, 2005 |
6q25.2-q25.3 |
Microdel. |
- |
Nagamani, 2008 |
7p21.1 |
Saethre-Chotzen- |
- |
Johnson, 1998 |
7p14.1 |
Greig Cephalo-polysyndactyly |
- |
Johnston, 2003 |
7q11.23 |
Williams-Beuren- |
Microdup. |
D |
7q21.3 |
Split hand/foot |
- |
D |
7q31 |
Speech-Language- |
- |
D |
7q36 |
Holoprosencephaly |
- |
W |
7q36 |
Currarino |
- |
W |
7q36.3 |
- |
Triphalangeal Thumb Polysyndactyly Syndrom |
Klopocki, 2008 |
8p23.1 |
Microdel. |
- |
D |
8p12p21 |
Microdel. |
- |
Willemsen, 2009 |
8q12.2 |
CHARGE |
Microdup. |
Vissers, 2004/ Lehman 2009 |
8q21.3-q22.1 |
Microdel. |
- |
S |
8q24.11 |
Langer-Giedion- |
- |
Feely, 2002 |
9pter-p22.3 |
Monosomy 9p |
- |
W |
9p24.3 |
Sex Reversal |
- |
Muroya, 2000 |
9q22.3 |
Microdel. |
- |
S |
9q22.32 |
Holoprosen- |
- |
W |
9q33.3 |
Nail-Patella |
- |
Bongers, 2008 |
9q34.3 |
Subtelomere |
- |
D |
10p15 |
Hypoparathyroidism, |
- |
van Esch, 2000 |
10p12.31 |
Di George |
- |
W |
10q22-q23 |
Microdel. |
- |
W |
10q23.2-q23.3 |
Juvenile Polyposis |
- |
W |
10q24.32 |
- |
Split-Hand/ |
W |
11p15.5 |
Beckwith- |
BWS/ SRS |
Russo, 2006 |
11p13 |
WAGR- |
- |
D |
11p11.2 |
Potocki-Shaffer- |
- |
D |
11q14.1-q14.2 |
Microdel. |
- |
W |
11q23.3-qter |
Jacobsen |
- |
W |
12q14 |
Microdeletion |
- |
D |
12q24.1 |
Noonan |
- |
W |
13q12.12 |
Spastic ataxia |
- |
Breckpot, 2008 |
13q12.3-q13.1 |
Microdel. |
- |
W |
13q14.2 |
Retinoblastoma |
- |
W |
13q22 |
Hirschsprung Disease |
- |
W |
13q32.3 |
Holoprosencephaly5 |
- |
W |
14q12 |
Congentital Rett |
Microdup. |
Mencarelli, 2009/ Yeung 2009 |
14q22-q23 |
Microdel. |
- |
W |
15q11.2-q13.1 |
Angelman-Syndrom |
Microdup. |
D/LL |
15q11.2-q13.1 |
Angelman-Syndrom |
Microdup. |
D/LL |
15q11.2-q13.1 |
Prader-Willi- |
Microdup. |
D/LL |
15q11.2-q13.1 |
Prader-Willi- |
Microdup. |
D/LL |
15q13.3 |
Microdel. |
Microdup. |
D/ Miller, 2008 |
15q15.3 |
Deafness and Male |
- |
Zhang, 2007 |
15q21 |
Microdel. |
- |
Pramparo, 2005 |
15q24 |
Microdel. |
Microdup. |
D/ Kiholm Lund, 2008 |
15q26.2 |
Fryns |
- |
Slavotinek, 2005 |
16p13.3 |
ATR-16- |
- |
D |
16p13.3 |
Tuberous Sclerosis |
Tuberous Sclerosis |
Kozlowski, 2007 |
16p13.1 |
Microdel. |
Microdup |
Ullmann, 2007 |
16p13.3 |
Rubinstein-Taybi- |
- |
D |
16p11.2-p12.2 |
Microdel. |
- |
D |
16p11.2 |
Microdel. |
- |
Kumar, 2008 |
16q11.2-q12.2 |
Microdel. |
- |
Ballif, 2008 |
16q21-q22 |
Microdel. |
- |
W |
16q24.1 |
Microdel. |
- |
Stankiewicz, 2009 |
16q24.3 |
Fanconi Anämie A (FANCA) Del. Syndrom |
- |
W |
17p13.3 |
Miller-Diecker- |
MDS |
D/ Roos, 2009 |
17p12 |
Hereditary liability to |
Charcot-Marie- |
D |
17p11.2 |
Smith-Magenis- |
Potocki- |
D |
17q11 |
Neurofibromatose |
Microdup. |
D/ Grisart, 2008 |
17q11.2-q12 |
Microdel. |
- |
S |
17q12 |
Microdel. |
- |
D |
17q12 |
Microdel. |
Microdup. |
S/ Mefford, 2007 |
17q12-q21 |
Van Buchem |
- |
W |
17q21.3 |
Microdel. |
- |
D |
17q22-23.2 |
Microdel. |
- |
Puusepp, 2008 |
17q24.2-q24.3 |
Carney Complex |
- |
Blyth, 2008 |
18p11.31 |
Holoprosencephaly |
- |
W |
18q12.3-q21.1 |
Proximal 18q |
- |
Cody, 2007 |
19q13.11 |
Microdel. |
- |
Malan, 2009 |
19q13.2 |
Diamond-Blackfan |
- |
Tentler, 2000 |
20p12.3 |
Wolff-Parkinson- |
- |
Lalani, 2008 |
20p11-p12 |
Alagille- |
- |
Yuan, 1998 |
20q13.13-q13.2 |
Microdel. |
- |
S |
20q13.32 |
Albright Hereditary |
- |
Aldred, 2002 |
21q21.3 |
- |
Microdup. |
D |
21q22.12 |
Thrombo- |
- |
Shinawi, 2008 |
22p11.1-q11.21 |
- |
Cat Eye- |
D |
22q11.21-q11.23 |
Di George Syndrom/ |
Microdup. |
D |
22q11.2 |
Distal Microdel. |
Distal Microdup. |
D/ Coppinger, 2009 |
22q12.2 |
NF2 Microdel. |
- |
W |
22q13 |
Microdel. |
- |
D |
Xp22.33 |
Leri-Weill |
- |
D |
Xp22.32-p22.31 |
X-Linked |
- |
W |
Xp22.31 |
Steroid sulphatase |
- |
D |
Xp22.32 |
Kallmann- |
- |
Massin, 2003 |
Xp22 |
MIDAS |
- |
Wimplinger, 2007 |
Xp21.3-p21.2 |
X-linked congenital |
- |
Muscatelli, 1994 |
Xp21.2 |
Muscular Dystrophy |
- |
Zneimer, 1993 |
Xp21.2 |
Complex Glycerol |
- |
Stanczak, 2007 |
Xp11.3 |
Xp11.3 Del. |
- |
Lugtenberg, 2006 |
Xp11.23 |
Goltz- |
- |
Grzeschik, 2007 |
Xp11.22 |
- |
17-beta-hydroxysteroid dehydrogenase X (HSD) |
Froyen, 2008 |
Xq13.2 |
X-inactivation |
- |
W |
Xq22.1 |
Bruton Agamma- |
- |
Richter, 2001 |
Xq22.2 |
Microdel. |
Pelizaeus-Merzbacher |
LL/D |
Xq22.3-q23 |
Microdel. |
- |
Hoischen, 2009 |
Xq25 |
Lymphoproliferative |
- |
W |
Xq27.1 |
- |
X-linked |
Solomon, 2002 |
Xq27.3 |
Fragile Site Mental |
- |
Coffee, 2008 |
Xq28 |
Rett- |
MECP2 |
D |
Xq28 |
early infantile epileptic |
- |
Saitsu, 2008 |
Yp11.31 |
Sex-Determining |
- |
W |
Yq11.21 |
AZFa |
- |
D |
Yq11.221-q11.223 |
AZFb |
- |
D |
Yq11.221-q11.23 |
AZFb+c |
- |
D |
Yq11.223-q11.23 |
AZFc |
- |
D |
Dauer: 5 - 10 Tage (pränatal); bis zu 6 Wochen (postnatal)
Weiterführende Informationen
siehe oben auf dieser Seite
Ansprechpartner:
Arbeitsgruppenleiter,
Fachhumangenetiker (GfH); European registered Clinical Laboratory Geneticist (ErCLG); Invited Professor of the Yerevan State University, Armenia // Visiting Professor of University of Belgrade, School of Medicine, Serbia