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MASARYKOVA UNIVERZITA Lékařská Fakulta MASARYKOVA UNIVERZITA Léka řská fakulta Biologický ústav Sanatorium REPROMEDA Dizerta ční práce - přílohy Preimplanta ční genetická diagnostika chromozomálních abnormit a screening aneuploidií časných embryí v terapii sterilních a infertilních pár ů metodou fertilizace in vitro Vědní obor: Léka řská biologie 5103V023 Brno, 2009 MUDr. Kate řina Veselá SEZNAM P ŘÍLOH Příloha 1 Autosomální dominantní Mendelovsky d ědi čné choroby (4 strany) Příloha 2 Autosomální recesívní Mendelovsky d ědi čné choroby (8 stran) Příloha 3 X - vázané Mendelovsky d ědi čné choroby (2 strany) Sperm and embryo analysis in a carrier of supernumerary inv Příloha 4 (21 stran) dup(15) marker chromosome Hybridization of the 18 alpha–satellite probe to chromosome 1 Příloha 5 (4 strany) revealed in PGD Příloha 6 What next for preimplantation genetic screening? (3 strany) ESHRE PGD Consortium data collection VI: cycles from January Příloha 7 (4 strany) to December 2003 with pregnancy follow-up to October 2004 ESHRE PGD Consortium data collection V: Cycles from January Příloha 8 (19 stran) to December 2002 with pregnancy follow-up to October 2003 Příloha 9 Central data collection on PGD and screening (1 strana) Příloha 1 Autosomální dominantní Mendelovsky dědičné choroby (odkazuje na www.diseasesdatabase.com) 4-hydroxyphenylpyruvate hydroxylase deficiency Blue color blindness Acatalasia Blue rubber bleb nevus syndrome Achondroplasia Boomerang dysplasia Acro-dermato-ungual-lacrimal-tooth syndrome Branchio-oculo-facial syndrome Acrodysostosis syndrome Brugada syndrome Acrokerato-elastoidosis Bullous ichthyosiform erythroderma Acroreno-ocular syndrome Buschke-Fischer-Brauer keratoderma syndrome Acute intermittent porphyria C1 esterase inhibitor (C1-INH) deficiency Adams-Oliver syndrome CADASIL Adenylate kinase deficiency Caffey disease Adiposa dolorosa Camptomelic dysplasia Alagille syndrome Camurati-Engelmann disease Albinoidism, Oculocutaneous,autosomal dominant Cardiofaciocutaneous syndrome Alpha-thalassemia/mental retardation syndrome, Cardiomyopathy, familial hypertrophic deletion type Carney myxoma-endocrine complex Alternating hemiplegia of childhood Carotenemia, familial Amyloid polyneuropathy (Portuguese) Cavernous haemangioma Amyloidosis, primary cutaneous Cayler cardiofacial syndrome Amyotrophic lateral sclerosis Central core myopathy Amyotrophy, hereditary neuralgic Char syndrome Andersen cardiodysrhythmic periodic paralysis CHARGE syndrome Anterior segment mesenchymal dysgenesis Cherubism Apert syndrome Chester porphyria Apolipoprotein B deficiency Chondrodysplasia punctata, autosomal dominant Arias oculootoradial syndrome CINCA syndrome Autoimmune polyendocrine syndrome type 2 Cleidocranial dysplasia Autosomal dominant hypophosphatemic rickets Complement factor Hdeficiency Autosomal dominant lateral temporallobe epilepsy Congenital dyserythropoietic anaemiatype 3 Autosomal dominant rhegmatogenous retinal Congenital fiber-type disproportion myopathy detachment Congenital fibrosis of theextraocular muscles type 1 Avellino combined granular-latticecorneal dystrophy Congenital stromal corneal dystrophy Banki syndrome Contractural arachnodactyly Barakat syndrome Coproporphyria, hereditary Bare lymphocyte syndrome type 2 Cornea plana type 1 Bart-Pumphrey syndrome Costello syndrome Benign familial hematuria Craniofacialdysmorphism-polysyndactyly syndrome Benign familial infantile convulsions Craniofacial-deafness-hand syndrome Benign familial microcytic thrombocytosis Craniometaphyseal dysplasia, Jackson type Benign neonatal epilepsy Crouzon craniofacial dysostosis Benign Rolandic epilepsy Currarino triad Benign symmetrical lipomatosis of Madelung Curry-Hall syndrome Best vitelliform macular dystrophy Cushing proximal symphalangism Bethlem myopathy Cyclical neutropenia Birt-Hogg-Dube syndrome Dentatorubropallidoluysian degeneration Blau syndrome Dentin dysplasia Blepharonasofacial syndrome Dentinogenesis imperfecta Blepharophimosis syndrome Denys-Drash syndrome 1 Dermatopathia pigmentosa reticularis French type sialuria DiGeorge syndrome Frontotemporal dementia Dihydrofolate reductasedeficiency Gamstorp-Wohlfart syndrome Disseminated superficial actinic porokeratosis Gardner syndrome DOOR syndrome (autosomal dominant) GCK-related permanent neonatal diabetes mellitus Dowling-Degos syndrome Gerstmann-Straussler-Scheinker disease Dowling-Meara epidermolysis bullosa Glaucoma, primary open angle,juvenile-onset type 1 Doyne honeycomb choroiditis Glomerulocystic kidney disease Duane ocular retraction syndrome Glucocorticoid receptor defect Dutch type hereditary cerebral hemorrhage with Glucocorticoid-suppressible hyperaldosteronism amyloidosis Glucose phosphate isomerase deficiency Dysplastic nevus syndrome Glucose transporter type 1 deficiency Dysprothrombinemia, hereditary Goldenhar syndrome Dystonia musculorum deformans type 1 Gordon distal arthrogryposis syndrome Eccrine dermal cylindroma Gorlin basal cell nevus syndrome Ectrodactyly, ectodermal dysplasiaand cleft lip/palate Granulosis rubra nasi syndrome type 1 Haber syndrome Edstrom myopathy Hailey-Hailey disease Emery-Dreifuss muscular dystrophy, autosomal Hajdu-Cheney syndrome dominant Hand-foot-uterus syndrome Epidermolysis bullosa simplex Haw River syndrome Epidermolysis bullosa simplex, Ognatype Hay-Wells syndrome Episodic ataxia type 1 Hereditary benign intraepithelial dyskeratosis Episodic ataxia type 2 Hereditary elliptocytosis Episodic ataxia type 5 Hereditary essential myoclonus Epstein macrothrombocytopenia syndrome Hereditary haemorrhagic telangiectasia Erdheim cystic medialnecrosis Hereditary leiomyomatosis and renal cell cancer Erythrokeratoderma variabilis Hereditary liability to pressure palsies Erythrokeratodermia, progressive symmetric Hereditary nonpolyposis colorectal cancer Erythromelalgia, primary Hereditaryonycho-osteodysplasia Essential tremor Hereditary paraganglioma type 1 Exostosis of external auditory canal Hereditary sensorimotor neuropathytype 1 Facio-scapulo-humeral musculardystrophy Hereditary sensorimotor neuropathytype 2 Fahr disease Hereditary sensorimotor neuropathytype 5 Familial adenomatous polyposis Hereditary sensory and autonomic neuropathy type 1 Familial atrial fibrillation type 1 Hereditary spherocytosis Familial British dementia Hereditary stomatocytosis Familial chondrocalcinosis Hereditary xerocytosis Familial cold urticaria Hibernian fever, familial Familial cutaneous collagenoma Hidrotic ectodermal dysplasia Familial Danish dementia Hischsprungdisease-microcephaly-mental retardation Familial eosinophilia syndrome Familial euthyroid hyperthyroxinemia Holt-Oram syndrome Familial hemiplegic migraine Huntington chorea Familial hypocalciuric hypercalcaemia Huntington disease (Westphalvariant) Familial infiltrative fibromatosis Huntington disease-like 1 Familial juvenile hyperuricemic nephropathy Huntington disease-like 2 Familial partial lipodystrophy type 1 Huntington disease-like 4 Familial partial lipodystrophy type 2 Huriez syndrome Familial visceral amyloidosis,Ostertag type Hutchinson-Gilford progeria syndrome Familial visceral myopathy Hyperexplexia Fatal familial insomnia Hyperferritinemia-cataract syndrome Fechtner syndrome Hyperkalaemic periodic paralysis Feingold syndrome Hyperlipoproteinemia, familial type 5 Ferguson-Smith epithelioma Hypertrichosis lanuginosa, congenital Finnish type amyloidosis Hypochondroplasia Frasier syndrome Hypohidrotic ectodermal dysplasia, autosomal Freeman-Sheldon syndrome dominant 2 Hypokalaemic periodic paralysis (primary) Milroy disease Hypotrichosis simplex Mobius syndrome Hystrix-like ichthyosis with deafness Moore-Federman syndrome Icelandic type hereditary cerebralamyloid angiopathy Muckle-Wells syndrome Ichthyosis hystrix gravior Muenke syndrome Ichthyosis vulgaris Muir-Torre syndrome Idiopathic multicentric osteolysis Multiple cutaneous and mucosal venous Inclusion body myopathy withearly-onset Paget malformations disease and frontotemporal dementia Multiple endocrine neoplasia type 1 INS-related permanent neonatal diabetes mellitus Multiple endocrine neoplasia type 2a Insulin receptor defect with insulin-resistant diabetes Multiple endocrine neoplasia type 2b mellitus Multiple hamartoma syndrome Iridogoniodysgenesis type 1 Multiple hereditary exostoses Isaacs-Mertens syndrome Multiple lentigines syndrome Jackson-Lawler congenital pachyonychia Multiple synostoses syndrome type 1 Jackson-Weiss syndrome Myhre syndrome Jadassohn-Lewandowsky syndrome Myosin storage myopathy Jones syndrome Myositis ossificans progressiva Juvenile colonic polyposis Myostatin-related muscle hypertrophy KCNJ11-related permanent neonatal diabetes mellitus Myotonia congenita, autosomal dominant Keratitis-ichthyosis-deafnesssyndrome, autosomal Myotonia fluctuans dominant Myotonic dystrophy Keratosis follicularis(congenital) Naegeli-Franceschetti-Jadassohn syndrome Kindler-Weary bullous acrokeratotic poikiloderma Nail dysplasia, isolated congenital Kjer-type optic atrophy Nemaline myopathy, autosomal dominant Kleine-Levin-Critchley syndrome Neuroferritinopathy Kniest dysplasia Neurofibromatosis type 1 Laing distal myopathy Neurofibromatosis type 2 Langer-Giedion syndrome Neuroserpin inclusion bodyencephalopathy, familial Langer-Saldino achondrogenesis Neutrophilia, hereditary Lattice corneal dystrophy type 1 Nievergelt-Erb syndrome Laurin-Sandrow syndrome North Carolina macular dystrophy Lenegre-Lev disease Oculocerebrocutaneous syndrome Lenz-Majewski hyperostosis syndrome Oculo-dento-digital syndrome Liddle syndrome Okihiro syndrome Limb-mammary
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