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毫排抛甘
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1 染色體 ( 微小 ) 缺失 / 擴增與非整倍體之疾病列表 Diseases of Chromosome (Micro-) Deletion/Duplication & Aneuploidy 1 號染色體相關疾病 1p31.3 缺失 1p36 缺失症候群 1q21.1 微小缺失 Fryns 氏症候群唇顎裂症候群 Chromosome 1p31.3 Deletion Chromosome 1p36 Deletion Syndrome Chromosome 1q21.1Microdeletion Fryns Syndrome (FRNS) van der Woude Syndrome (VWS) 2 號染色體相關疾病短指 ( 趾 ) 智力障礙症候群 Brachydactyly-Mental Retardation Syndrome (BDMR) 2p15-p16.1 微小缺失 2q33.1 缺失症候群 2q37 缺失症候群 Feingold 氏症候群第一型 Glass 氏症候群前腦發育畸形症第二型前腦發育畸形症第六型 Mowat-Wilson 氏症候群嬰兒重度肌陣攣癲癇裂手裂足症第五型多指症 Chromosome 2p15-p16.1 Microdeletion Chromosome 2q33.1 Deletion Syndrome Chromosome 2q37 Deletion Syndrome Feingold syndrome 1 (FGLDS1) Glass Syndrome (GLASS) Holoprosencephaly 2 (HPE2) Holoprosencephaly 6 (HPE6) Mowat-Wilson Syndrome (MOWS) Severe Myoclonic Epilepsy in Infancy Split-Hand/Foot Malformation 5 (SHFM5) Synpolydactyly (SPD) 1 of 9

2 3 號染色體相關疾病先天性低血鈣症先天性瞼口狹小症 Autosomal Dominant Hypocalcemia-1(HYPOC1) Blepharophimosis, Epicanthus Inversus, and Ptosis (BPES) 3q29 缺失症候群 3q29 擴增症候群 Dandy-Walker 氏症候群小眼畸形症候群第三型裂手裂足症第四型瓦登伯革氏症候群第 2A 型 Chromosome 3q29 Deletion Syndrome Chromosome 3q29 Duplication Syndrome Dandy-Walker Syndrome (DWS) Microphthalmia Syndromic 3 (MCOPS3) Split-Hand/Foot Malformation 4 (SHFM4) Waardenburg Syndrome Type IIA (WS2A) 4 號染色體相關疾病 Axenfeld-Rieger 氏症第一型沃夫 - 賀許宏氏症 Axenfeld-Rieger Syndrome Type 1 (RIEG1) Wolf-Hirschhorn Syndrome (WHS) 5 號染色體相關疾病先天性心房中膈缺損狄蘭吉氏症候群第一型貓哭症候群遺傳性大腸息肉症第一型前腦發育畸形合併軸前多指症 Atrial Septal Defect (ASD) Cornelia de Lange Syndrome 1 (CDLS1) Cri-du-chat Syndrome Familial Adenomatous Polyposis-1 (FAP1) Holoprosencephaly & Preaxial Polydactyly Syndrome 6 號染色體相關疾病 6p25.3 微小缺失 Chromosome 6p25.3 Microdeletion 2 of 9

3 鎖骨顱骨發育不全 Joubert 氏症候群第三型糖尿病微血管併發症類小胖威力症候群 Cleidocranial Dysplasia (CCD) Joubert Syndrome 3 (JBTS3) Microvascular Complications of Diabetes (MVCD) Prader-Willi-like Syndrome 7 號染色體相關疾病泛自閉症障礙 7q11.23 擴增症候群 Currarino 氏症候群囊腫性纖維化 Greig 症候群前腦發育畸形症第三型先天性肌肉強直症 Autistic Spectrum Disorder susceptibility Chromosome 7q11.23 Duplication Syndrome Currarino Syndrome Cystic Fibrosis (CF) Greig Cephalopolysyndactyly Syndrome (GCPS) Holoprosencephaly 3 (HPE3) Myotonia Congenita (MC) 成骨不全症 ( 玻璃娃娃 ) 第二型 Osteogenesis Imperfecta Type 2 成骨不全症 ( 玻璃娃娃 ) 第三型 Osteogenesis Imperfecta Type 3 成骨不全症 ( 玻璃娃娃 ) 第四型 Osteogenesis Imperfecta Type 4 Saethre-Chotzen 氏症候群言語障礙威廉氏症候群 Saethre-Chotzen Syndrome (SCS) Speech-Language Disorder Williams-Beuren Syndrome (WBS) 8 號染色體相關疾病 CHARGE 聯合畸形症候群 8p23.1 缺失症候群 Joubert 氏症候群第三型糖尿病微血管併發症類小胖威力症候群 CHARGE Syndrome Chromosome 8p23.1 Deletion Syndrome Joubert Syndrome 3 (JBTS3) Microvascular Complications of Diabetes (MVCD) Prader-Willi-like Syndrome 3 of 9

4 毛髮鼻指 ( 趾 ) 症候群第二型 Trichorhinophalangeal Syndrome Type II (TRPS2) 9 號染色體相關疾病 46XY 性別反轉第四型基底細胞母斑症候群 9p 缺失症候群 9q22.32-q22.33 微小缺失前腦發育畸形症第七型 Kleefstra 氏症候群指 ( 趾 ) 甲髕骨症候群 46XY, Sex Reversal 4 (SRXY4) Basal Cell Nevus Syndrome (BCNS) Chromosome 9p Deletion Syndrome Chromosome 9q22.32-q22.33 Microdeletion Holoprosencephaly 7 (HPE7) Kleefstra syndrome Nail-Patella Syndrome (NPS) 10 號染色體相關疾病 10q22.3-q23.31 微小缺失 Cowden 氏症候群狄喬治顎心臉複合症第二型 Chromosome 10q22.3-q23.31 Microdeletion Cowden Syndrome DiGeorge Syndrome/Velocardiofacial Syndrome Complex-2 (DGS2) HDR 症候群 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease (HDR) 裂腦畸型裂手裂足症第三型 Schizencephaly Split-Hand/Foot Malformation 3 (SHFM3) 11 號染色體相關疾病先天性虹膜缺損 Beckwith-Wiedemann 氏症乙型海洋性貧血 Aniridia Beckwith-Wiedemann syndrome (BWS) Beta-Thalassemia 4 of 9

5 Jacobsen 氏症候群 Potocki-Shaffer 氏症候群 WAGR 症候群威爾姆氏腫瘤第一型 Jacobsen Syndrome (JBS) Potocki-Shaffer Syndrome WAGR Syndrome Wilms Tumor 1 (WT1) 12 號染色體相關疾病 12q14 微小缺失症候群 12q24.21-q24.23 微小擴增 Holt-Oram 氏症候群 Joubert 氏症候群第五型 Pallister-Killian 氏症候群 Ulnar-Mammary 氏症候群 Chromosome 12q14 Microdeletion Syndrome Chromosome 12q24.21-q24.23 Microduplication Holt-Oram Syndrome (HOS) Joubert Syndrome 5 (JBTS5) Pallister-Killian Syndrome (PKS) Ulnar-Mammary Syndrome (UMS) 13 號染色體相關疾病前腦發育畸形症第五型視網膜母細胞瘤 Holoprosencephaly 5 (HPE5) Retinoblastoma 14 號染色體相關疾病前腦發育畸形症第八型小眼畸形 Holoprosencephaly 8 (HPE8) Microphthalmia 15 號染色體相關疾病天使症候群 Angelman - 70% 泛自閉症障礙 Autistic Spectrum Disorder susceptibility 5 of 9

6 15q24.1-q24.3 微小缺失先天性橫膈膜疝氣第一型馬凡氏症候群眼皮膚白化症第二型 Chromosome 14q22-q23 Microdeletion Congenital Diaphragmatic Hernia 1 (DIH1) Marfan Syndrome (MFS) Oculocutaneous Albinism Type 2 (OCA2) 小胖威利症候群 Prader-Willi Syndrome (PWS) - 70% 16 號染色體相關疾病甲型海洋性貧血泛自閉症障礙 16p11.2-p12.2 微小缺失 / 擴增 Alpha-Thalassemia Autistic Spectrum Disorder susceptibility Chromosome 16p11.2-p12.2 Microdeletion/Microduplication 16p13.1 微小缺失 / 擴增 Chromosome 16p13.1 Microdeletion/Microduplication Rubinstein-Taybi 氏症候群 Rubinstein-Taybi 氏症第一型 Townes-Brocks 氏症候群 Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome 1 (RSTS1) Townes-Brocks Syndrome (TBS) 17 號染色體相關疾病 17q21.3 復發性微小缺失症候群 Chromosome 17q21.3 Recurrent Microdeletion Syndrome 平腦症第一型 Miller-Dieker 氏症候群神經纖維瘤第一型 Lissencephaly 1 (LIS1) Miller-Dieker lissencephaly syndrome (MDLS) Neurofibromatosis Type 1 (NF1) 成骨不全症 ( 玻璃娃娃 ) 第一型 Osteogenesis Imperfecta Type 1 腎囊腫與糖尿病症候群史密斯 - 馬吉利氏症候群 Renal Cysts and Diabetes Syndrome (RCAD) Smith-Magenis Syndrome (SMS) 6 of 9

7 18 號染色體相關疾病前腦發育畸形症第四型 Holoprosencephaly 4 (HPE4) 20 號染色體相關疾病阿拉吉歐症候群杜恩氏症候群 Alagille Syndrome Duane-Radial Ray Syndrome (DRRS) 21 號染色體相關疾病唐氏症致病主要區域前腦發育畸形症第一型 Down Syndrome Critical Region (DSCR) Holoprosencephaly 1 (HPE1) 22 號染色體相關疾病泛自閉症障礙貓眼症候群 22q11.2 擴增症候群 22q13 缺失症候群狄喬治症候群神經纖維瘤第二型顎心臉症候群 Autistic Spectrum Disorder susceptibility Cat Eye Syndrome (CES) Chromosome 22q11.2 Duplication Syndrome Chromosome 22q13 Deletion Syndrome DiGeorge Syndrome (DGS) Neurofibromatosis Type 2 (NF2) Velocardiofacial Syndrome (VCSF) 性染色體相關疾病 46XY 性別反轉第二型先天性腎上腺發育不良貝克氏肌肉萎縮症 46XY, Sex Reversal 2 (SRXY2) Adrenal Hypoplasia Congenital (AHC) Becker Muscular Dystrop (BMD) 7 of 9

8 Xp11.3 缺失症候群早發幼兒癲癇性腦病變第二型 FG 症候群第五型 X 染色體脆折症甘油激酶缺乏症卡勒曼症候群第一型軟骨骨生成障礙 Lowe 氏症候群小眼畸形症候群第七型 Opitz GBBB 症候群第一型鳥胺酸氨甲醯基轉移酶缺乏症 Pelizaeus-Merzbacher 氏症雷特氏症低丙型血球蛋白血症 X 性聯遺傳平腦症第一型淋巴細胞增生症候群第一型智能障礙第 21 型 Chromosome Xp11.3 Deletion Syndrome Early Infantile Epileptic Encephalopathy 2 (EIEE2) FG Syndrome 5 (FG5) Fragile X Mental Retardation Syndrome Glycerol Kinase Deficiency Kallmann syndrome 1 (KAL1) Leri-Weill dyschondrosteosis (LWD) Lowe Oculocerebrorenal Syndrome (OCRL) Microphthalmia Syndromic 7 (MCOPS7) Opitz GBBB syndrome Type 1 (GBBB1) Ornithine Transcarbamylase Deficiency Pelizaeus-Merzbacher Disease (PMD) Rett Syndrome (RTT) X-Linked Agammaglobulinemia (XLA) X-Linked Lissencephaly 1 (LISX1) X-Linked Lymphoproliferative Syndrome 1 (XLP1) X-Linked Mental Retardation 21 (MRX21) 染色體數目異常相關疾病全染色體之非整倍體例如 : 唐氏症 Aneuploidy for All 24 Chromosomes Down Syndrome (Trisomy21) 愛德華氏症 Edward Syndrome (Trisomy 18) 巴陶氏症 Patau Syndrome (Trisomy 13) 透納氏症三染色體 X 症候群柯林菲特氏症 Turner Syndrome (45X) Triple X Syndrome (47,XXX) Klinefelter Syndrome (47,XXY) 8 of 9

造成遺傳疾病的原因眾多, 染色體基因晶片僅能針對規格技術內偵測遺傳疾病之片段進行分析,

9 端粒區域 (Telomere) 41 個染色體端粒特定區域 All 41 Unique Subtelomeric Regions 著絲粒區域 (Centromere) 43 個染色體著絲粒特定區域 All 43 Unique Pericentromeric Regions 造成遺傳疾病的原因眾多, 染色體基因晶片僅能針對規格技術內偵測遺傳疾病之片段進行分析, 報告結果未測得異常僅代表受檢者或受檢胎兒染擁有較低的染色體異常風險點突變及染色體平衡性轉位等無法由晶片偵測, 因此染色體基因晶片無法取代其他傳統染色體分析 DNA Microarray Technology 9 of 9 CSDL

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<A4A4A4E5AF65AF66B24DB3E628BAF4ADB6A5CE292E786C73> Chr.1 1 604841 1p21.1 Stickler syndrome, type II (STL2) 史蒂克勒氏症候群第 2 型 1 274270 1p21.3 Dihydropyrimidine dehydrogenase deficiency N/A 1 607872 1p36 Chromosome 1p36 deletion syndrome 1p36 缺失症候群 1 612474