Դäҧѹء

            ԴԷҧѹء ԴҡԴԢͧ 觤ԴԴѧ 2 Ẻ

            1. ԴԢͧ Դҡ¹ŧͧҧ դԴ 2 Դ
                 1.1 ԴԷӹǹ 繤ԴԷӹǹ㹺ҧԹ 1 ֧ҧ· 47 45 1 2

˭ԧ֧ 45+XX

Ȫ¨֧Ẻ 45+XY

ҧԴԷӹǹ㹺ҧԹ մѧ
                 1) ҡôǹ (Down's syndrome) ԴҡԴԢͧ¤ 21 Թ 1 áԴյ͹ǡ¡ ẹ 駨١ẹ ҧ еҪ鹺 ټԴٻ ҡԴʹԷ 鹨ءҡ 鹻 ͢Ҵ ժͧҧҧйǷͧ ҼԴ Ҩ㨾ԡԴ лѭ͹ ҡ͡§١繡ҡôǹ

ٻʴѡɳСҡôǹ

                 2) ҡ (Edward's syndrome) ԴҡԴԢͧ¤ 18 Թ 1 ѡɳзҡѡɳ ˹Ҽҡẹ ҧ ټԴ ͺԴ Сҡѹ 㨾ԡ ʹкüԴ ѡɳлѭ͹ äѡªԵ͹ 1 Ǻ ѧٻ

ٻʴѡɳСҡ

                 3) ҡþ (Patau's syndrome) ԴҡԴԢͧٷ 13 Թ 1 ѡɳзҡоҡûѭ͹ ҡ ྴҹ ˹ǡ Թ Ҩԡ ͵Һʹ ǹ˭ҡ ѧٻ

ٻʴѡɳСҡþ

                 1.2 ԴԷٻҧͧ 繤ԴҧҴ仺ҧǹ 5 1 ӹǹҡѺ 46

ҧԴԷٻҧͧҴ仺ҧǹ մѧ
                 - ҡäԴ٪ҵ (Cri-du-chat syndrome) Դҡᢹ 5 1 ѡɳз辺 硡һ ˹ҡ ٵӡһ ҧ ҡûѭ͹ ѡɳз蹪Ѵ㹡ҡù §ͧ硤§ͧ ֧¡ҡùաҧ˹ Cat-cry-syndrome ѧٻ

ٻʴѡɳСҡäԴ٪ҵ

            2. ԴԢͧ ǹ˭Դҡӹǹ X Y ҴԹҨҡ ѧ·ʹѡɳзҧѹء١ҹա Դ蹹 2 Ẻ

                 2.1 ԴԷԴѺ X 2 ó
                 1) X Ҵ 1 X § ҧ 45 ˭ԧẺ 44+XO ¡ѡɳй ҡ (Turner's syndrome) ѡɳТͧ վѧ״ҧ繻ա Ǽ· ˹͡ҧ ǹҧѹ ˭ٻҧԴ ᢹ͡ ѧԭ ջШ͹ ѹ׹ ѺԷ ѧٻ

ٻʴѡɳСҡ

                 2) X ԹҨҡ ˭ԧȪ մѧ
                 (1) ˭ԧ XXX XXXX ֧ҧ 47 48 ѧ֧Ẻ 44+XXX 44+XXXX ¡·Ẻ (Super female) ѡɳТͧ˭ԧ仴ٻ ʵԻѭҵӡдѺ ١ԴҨҡẺҨդԴǡѺ
                 (2) Ȫ XXY XXXY ֧ҧ 47 48 ѧ֧Ẻ 44+XXY 44+XXXY ¡Ẻ ҡŹ (Klinefelter's syndrome) ѡɳТͧȪѡɳФ˭ԧ ⾡ ˹͡ ٧ҡҪ» ١ѳ ب ֧ѹ ѧٻ

ٻʴѡɳСҡŹ

2.2 ԴԷԴѺ Y ԴԷԴѺ Y Y ԹҨҡ Ȩ֧Ẻ XYY ֧ҧ 47 Ẻ 44+XYY¡·Ẻ (Super men) ѡɳТͧȪ¨ٻҧ٧˭һ ˧ ҧըԵ㨻 ѹ ѧٻ

ٻʴѡɳм¡

ͤ÷Һ
            ԴԷҧѹء мԴԷؤŹѺö·ʹҡѺչ ԴԷҧѹءҹ˵ԴҨҡü ͡¹ŧ㹴ͧ͢ ҧóաüԴ鹢зաҧ㹡觵ͫ ó ҨԴҡ÷·ʹԴüҧѺ١

äԴԷҧѹء

            äԴԷҧѹء
            1. äʵԡë (Cystic fibrosis) 繤ԴԷҧѹء觷ҧҧ͡˹ҡԴ 㹻ʹ äӺҡлʹ仴͡˹Ҩ ʹԴѹ¨ҡẤ·ԭԺ͡ ͡˹ҡӺҡ

˵

            Դäʵԡë üѡɳд ŷԴä龺ҡ褹Ҩҡû͹˹ 㹻ȹء ѹ硷áԴҨä 4 ѧٻ
ٻʴԴ㹻ʹ

            Ѩغѹѧշҧ㴷ѡäʵԡë¢Ҵ §ú¡ͻͧѹõԴͨҡ÷ӡҾӺѴ͡㹻ʹ ˹ҷҧԷʵѡԷʵǡѺ˵آͧäբ ҨЪԸաúӺѴŴա
            2. äԡ (Sickle-cell) 繤ԴԷҧѹءԴ鹡Ѻʹ ԴԹԴҡüҷ觼šз͡ѧźԹ õչӤѭ˹ҷ͡ਹʹᴧ äԡҧźԹٻҧԴ ͤ鹢ͧ͡ਹ ʹᴧٻҧԴٻ ѧٻ

ٻʴѡɳТͧʹᴧԴ

            ʹᴧٻҧẺٻǨö§͡ਹҡҡѺʹᴧ ٻҧ ÷ٻҧԴԨзʹʹԴشѹ äͧءҹҡѺâҴ͡ਹʹ ͹ç ѨغѹѧԸ㴷ѡäԡ ؤŷäѺͪºҡ纻Ǵлͧѹشѹͧʹʹҹ
            3. ä (Hemophilia) äԴҡԴԷҧѹء ʹͧä秵ҡ 秵 ФäöҧõչԴ繵͡秵Ǣͧʹ äպҴʹشҨªԵ ͡ҡáзᷡ§硹¡ҨԴÿѹ٧ҡʹ ä繤ԴͧѺ äҡҼ˭ԧ

ٻʴä