端部欠失と中間部欠失 - cytogen.jp

1 03j 03j 03j 03j 1 terminal delterminal delterminal delterminal dele-e-e-e-tiontiontiontion interstitial deletioninterstitial deletioninterstitial deletioninterstitial deletion partial monosomypartial monosomypartial monosomypartial monosomy 2:1~32:1~32:1~32:1~3:1:1:1:1 haploid authaploid authaploid authaploid autoooosomal length; somal length; somal length; somal length; HALHALHALHAL 100100100100 >2% HAL>2% HAL>2% HAL>2% HAL [14b [14b [14b [14b ] ] ] ]

2 22221111 HAL 550550550550 GGGG---- GGGG---- 5p5p5p5p 90%90%90%90% GGGG---- 10%10%10%10% GGGG---- 50%50%50%50% 10 Mb~3 Mb10 Mb~3 Mb10 Mb~3 Mb10 Mb~3 Mb terminal deletionterminal deletionterminal deletionterminal deletion GGGG---- [03f [03f [03f [03f ]]]] inverted duplication deletion; inverted duplication deletion.

3 Inverted duplication deletion; inverted duplication deletion; inv dup delinv dup delinv dup delinv dup del 18181818 DNADNADNADNA de de de de novonovonovonovo 35353535 30303030 86%86%86%86% 6666 2222 6%6%6%6% 1111 3%3%3%3% BrkanaBrkanaBrkanaBrkanac c c c et al., 1998et al., 1998et al., 1998et al., 1998 de novode novode novode novo GGGG---- 16161616 multiplex FISH multiplex FISH multiplex FISH multiplex FISH 3333 1111 inv dup delinv dup delinv dup delinv dup del Davies et al.

4 , 2003 Davies et al., 2003 Davies et al., 2003 Davies et al., 2003 3333 16161616 2222 10q10q10q10q , Xp, Xp, Xp, Xp GGGG---- GGGG---- 4p4p4p4p , 5p.

5 5p, 5p, 5p , Xp, Xp, Xp, Xp Ishii et al., 1997 Ishii et al., 1997 Ishii et al., 1997 Ishii et al., 1997 GGGG---- 03j 03j 03j 03j 2 subtelomeric probesubtelomeric probesubtelomeric probesubtelomeric probe FISHFISHFISHFISH

6 Interstitial deletioninterstitial deletioninterstitial deletioninterstitial deletion GGGG---- 6666%%%% de novode novode novode novo iiiinterchromosomal nterchromosomal nterchromosomal nterchromosomal inseinseinseinserrrrtiontiontiontion FISHFISHFISHFISH GGGG---- FISHFISHFISHFISH MbMbMbMb SotosSotosSotosSotos aaaa 5q355q355q355q35 NSD1 NSD1 NSD1 NSD1 50% 50% 50% 50% WilliamsWilliamsWilliamsWilliams ELNELNELNELN >90%>90%>90%>90% 2 2 2

7 2 bbbb RB1RB1RB1RB1 5555 10%10%10%10% PraderPraderPraderPrader----WilliWilliWi lliWilli 15q1215q1215q1215q12 <70%<70%<70%<70% 70%70%70%70% 4 4 4 4 AngelmanAngelmanAngelmanAngelman 15q1215q1215q1215q12 UBE3 AUBE3 AUBE3 AUBE3A <70%<70%<70%<70% 70%70%70%70% 4 4 4 4 SmithSmithSmithSmith----MagenMagenMagenMagenisisisis RAI1 RAI1 RAI1 RAI1 cccc 30%30%30%30% >90%>90%>90%>90% 3 3 3 3 STSSTSSTSSTS 90%90%90%90% KallmannKallmannKallmannKallmann KAL1 KAL1 KAL1 KAL1 10%10%10%10% DuchenneDuchenneDuchenneDuchenne dddd Xp21Xp21Xp21Xp21 DMDDMDDMDDMD 60%60%60%60% aaaa bbbb cccc CATCH22 CATCH22 CATCH22 CATCH22 dddd DMDDMDDMDDMD multiplex PCRmultiplex PCRmultiplex PCRmultiplex PCR

8 FISHFISHFISHFISH FISHFISHFISHFISH GGGG---- 100100100100 FISHFISHFISHFISH de novode novode novode novo 10%10%10%10% FISHFISHFISHFISH XXXX 80%80%80%80% STSSTSSTSSTS common deletion regioncommon deletion regioncommon deletion regioncommon deletion region unequal crossoverunequal crossoverunequal crossoverunequal crossover

9 Unequal crossoverunequal crossoverunequal crossoverunequal crossover 15q1215q1215q1215q12 PraderPraderPraderPrader----WilliWilliWi lliWilli AngelmanAngelmanAngelmanAngelman 03j 03j 03j 03j 3 XXXX XXXX GGGG---- 2222

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