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 | Guidelines and Indications for Genetic and Chromosome Analysis |
| |  | Indications for Genetic Evaluation |
| | | Indications for Chromosome Analysis in Assisted Fertilization |
| | | Guidelines for Genetic Screening to Detect Heterozygotes (Carrier Detection) |
| | | Number Needed to Screen (NNS) |
| | | Guidelines of the International Myotonic Dystrophy Consortium for Genetic Testing in Myotonic Dystrophy |
| | | Ethical Guidelines of Ross and Moon for Genetic Testing of a Child |
| | | Data of Macpherson et al for Predicting the Probability of Successful In Vitro Tissue Culture Growth from a Stillborn Fetus or Newborn Infant |
| | | Indications to Screen for Subtelomeric Defects in a Patient with Mental Retardation |
| | | Detection of Maternal Cell Contamination Affecting Genetic Analysis |
| General Characteristics of Genetic Disorders With Mendelian Inheritance |
| |  | General Characteristics of Genetic Disorders With Mendelian Inheritance |
| Hardy-Weinberg Formula and Gene Frequencies |
| | | Hardy-Weinberg Formula |
| | | Direct Count of Gene Frequencies |
| Huntington's Chorea |
| | | Risk of Huntington's Chorea in a Healthy First Degree Relative with an Affected Parent |
| | | Risk of Huntington's Chorea in a Health Second Degree Relative with Unaffected Parent |
| | | Age of Onset of Huntington's Chorea Based on the CAG Repeat Size |
| Predicting the Risk of Recurrence |
| | | Equation of Friedman for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History |
| | | Equation of Young for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History |
| | | Recurrence Risk for Germinal Mosaics |
| | | Estimating the Risk of Recurrence in a Relative When One Person Affected |
| | | Predicting Risk of Recurrence for Congenital Heart Disease |
| | | Risk of Recurrence for Down's Syndrome in the Offspring of a Woman with a Previously Affected Infant |
| | | Risk of Recurrence of a Cleft Lip and/or Palate |
| | | Predicting Risk of Recurrence in Hirschsprung's Disease |
| | | Recurrence Risk of Pyloric Stenosis |
| | | Risk of Recurrence of Achondroplasia |
| | | Empiric Risk of Retinoblastoma in the Offspring of a Patient with a Family History of Retinoblastoma |
| | | Probability of an RB1 Germline Mutation in a Proband with Retinoblastoma |
| Calculating the Risk of Being a Carrier |
| | | Use of Bayes Theorem to Calculate the Risk of Being a Carrier |
| | | Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman Who is the Daughter of an Obligate Carrier and Who Has Normal Sons |
| | | Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman Who is the Daughter of an Obligate Carrier and Who Has Normal Grandsons |
| | | Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman with One Affected Son |
| Lod Scores |
| | | Calculating the Lod Score from Family Data with Phase Known Meioses |
| | | Calculating the Lod Score from Family Data with Phase Unknown Meioses |
| | | Calculating the Number of Recombination Events Over the Total Number of Meioses Using the Maximum Lod Score |
| Genetic Maps |
| | | Mapping Functions of Haldane and Kosambi |
| | | Addition of Adjacent Intervals in Genetic Maps |
| Segregation Analysis and Ascertainment |
| | | Li-Mantel Method for Correction of Truncate Ascertainment in Families with Two Offspring |
| | | Sib Method for Correction of Single Ascertainment |
| Consanguineous Matings and Incest |
| | | Frequency of Autosomal Recessive Disease in Consanguineous Mating |
| | | Evaluating a Child for Evidence of Incest Based on the Number of Homozygous Alleles |
| | | Evaluation of a Mother and Offspring for Evidence of Incest Based on Analysis of Alleles at Highly Heterozygous Loci |
| Mutation Rates |
| | | Indirect Estimation of Mutation Rates |
| Paternity Testing |
| | | Paternity Index (PI) |
| | | Probability of Paternity Using the Paternity Index |
| | | Determining the Paternity Index With the Mother Unavailable |
| | | Random Male Not Excluded (RMNE) |
| | | Avuncular Index (AI) |
| Impact of Fitness on Population Frequencies |
| | | Population Frequency in an X-Linked Recessive Condition |
| | | Estimating Gene Frequencies at Equilibrium When Being a Heterozygote is an Advantage Over Being Homozygote for a Trait |
| Fragile X Syndrome |
| | | Indications for Genetic Testing of a Patient for the Fragile X Syndrome |
| | | Number of Cells Required for Cytogenetic Analysis in Patients with the Fragile X Syndrome |
| | | Clinical Features of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) |
| Mental Retardation Associated with Chromosomal Aberrations |
| | | Checklist of De Vries et al for Identification of Patients with Submicroscopic Subtelomeric Rearrangements |
| Age-Dependent Penetrance and Segregation Analysis |
| | | Logistic Distribution Curve for Age-of-Onset and Penetrance |
| Risk of Developing an Autosomal Dominant Disease If Unaffected and Cumulative Risk Known |
| | | Risk of Developing an Autosomal Dominant Disease If Unaffected and Cumulative Risk Known |
| Prader-Willi Syndrome |
| | | Diagnosis of the Prader-Willi Syndrome |
| | | Consensus Diagnostic Criteria of Holm et al for Prader-Willi Syndrome |
| | | Indications of Gunay-Aygun et al for DNA Testing of a Patient for Prader-Willi Syndrome |
| Criteria for the Diagnosis of Klinefelter's Syndrome |
| | | Criteria for the Diagnosis of Klinefelter's Syndrome |
| Segmental Fraction of the Haploid Autosomal Length (HAL) |
| | | Segmental Fraction of the Haploid Autosomal Length (HAL) |
| Analysis of the Y Chromosome |
| | | Y Chromosome Microdeletions Associated with Infertility |
| Mosaicism |
| | | Confidence Limits in the Percent Mosaicism Excluded When a Number of Cells Are Analyzed |
| Criteria for the Diagnosis of Proteus Syndrome |
| | | Criteria for the Diagnosis of Proteus Syndrome |
| Markers for Linkage Analysis |
| | | Heterozygosity Index (H or Het) for a Genetic Marker |
| | | Polymorphism Information Content (PIC) |
| Evaluation of Siblings |
| | | Sibship Index (SI) |
| | | Cumulative Sibling Index (CSI) |
| The Phenotypic Impact of a Mendelian Disease Scoring System |
| | | The Phenotypic Impact of a Mendelian Disease Scoring System |
| Marfan Syndrome |
| | | Indications for Evaluating a Person for Marfan Syndrome |
| | | Criteria for Organ Involvement in Marfan Syndrome |
| Syndromes Associated with Autosomal Deletions |
| | | Partial Deletion of 5p and the Cri du Chat Syndrome |
| | | Partial Deletion of 4p and the Wolf-Hirschhorn Syndrome |
| | | 22q13.3 Microdeletion Syndrome (Phelan-McDermid Syndrome) |
| | | Deletion 3p Syndrome (Verjaal-De Nef Syndrome) |
| | | 22q11.2 Microdeletion Syndrome (DiGeorge, Velo-Cardio-Facial, Shprintzen) |
| | | Clinical Features of 13q Deletion Syndrome |
| | | Clinical Features of 18p Deletion Syndrome |
| | | Clinical Features of 18q Deletion Syndrome |
| | | Clinical Features of the 4q Deletion Syndrome |
| Hereditary Hemorrhagic Telangiectasia (HHT, Rendu-Osler-Weber Syndrome) |
| | | The Curacao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia |
| Diagnostic Criteria of Rose et al for Stickler Syndrome |
| | | Diagnostic Criteria of Rose et al for Stickler Syndrome |
| Werner Syndrome |
| | | Diagnostic Criteria of Nakura et al for Werner Syndrome |
| Diagnosis of the VATER/VACTERL Association |
| | | Diagnosis of the VATER/VACTERL Association |
| Ehlers-Danlos Syndromes |
| | | Criteria for the Classical Ehlers-Danlos Syndrome (EDS I and II) |
| | | Criteria for the Hypermobility Type of Ehlers-Danlos Syndrome (EDS III) |
| | | Criteria for the Vascular Type of Ehlers-Danlos Syndrome (EDS IV) |
| | | Criteria for the Kyphoscoliosis Type of Ehlers-Danlos Syndrome (EDS VI) |
| | | Criteria for the Arthrochalasia Type of Ehlers-Danlos Syndrome (EDS VIIA and VIIB) |
| | | Criteria for the Dermatosparaxis Type of Ehlers-Danlos Syndrome (EDS VIIC) |
| Osteogenesis Imperfecta |
| | | Classification of Sillence et al for Osteogenesis Imperfecta |
| | | Factors of Englebert et al for Predicting the Ability to Walk in Patients with Osteogenesis Imperfecta |
| Beckwith-Wiedemann Syndrome |
| | | Clinical Diagnosis of an Infant with the Beckwith-Wiedemann Syndrome |
| Trisomy Syndromes |
| | | Trisomy 18 Score of Marion et al |
| | | Phenotypic Features of Trisomy 13 (Patau Syndrome) |
| | | Phenotypic Features of Trisomy 21 (Down's Syndrome) |
| | | Diagnostic Index of Preus for Down Syndrome |
| Russell-Silver Syndrome |
| | | Diagnostic Features of the Russell-Silver Syndrome |
| Noonan Syndrome |
| | | Phenotypic Features of Patients with Noonan Syndrome |
| Turner Syndrome |
| | | Phenotypic Features of Turner Syndrome That Justify Chromosomal Studies |
| Fanconi's Anemia |
| | | Score of Auerbach et al for Fanconi's Anemia Based on the International Fanconi Anemia Registry (IFAR) |
| | | Congenital Abnormality Score of Rosenberg et al for Predicting Bone Marrow Failure in Fanconi Anemia |
| CHARGE Association |
| | | Diagnostic Criteria for the CHARGE Association |
| Ocular-Auriculo-Vertrebral Spectrum (OAVS, Hemifacial Microsomia, Goldenhar Syndrome, First and Second Branchial Arch Syndrome) |
| | | The OMENS (Orbit, Mandible, Ear, Nerve, Soft Tissue) Classification for Hemifacial Microsomia |
| Diagnostic Features of the Smith-Lemli-Opitz Syndrome |
| | | Diagnostic Features of the Smith-Lemli-Opitz Syndrome |
| Diagnostic Features of the Treacher-Collins Syndrome |
| | | Diagnostic Features of the Treacher-Collins Syndrome |
| Rett Syndrome |
| | | Clinical Criteria for the Diagnosis of Rett Syndrome |
| | | Model of Jian et al for the Onset of Seizures in a Patient with Rett Syndrome |
| Waardenburg Syndrome |
| | | Diagnostic Criteria of the Waardenburg Consortium for Waardenburg Syndrome Types 1 and 2 |
| | | Ocular Measurements (W Index) for Identification of Dystopia Canthorum in Waardenburg Syndrome |
| Achondroplasia and Related Disorders |
| | | Phenotypic Features of Achondroplasia |
| Overgrowth Syndromes |
| | | Phenotypic Features of Sotos Syndrome (Cerebral Gigantism) |
| Myotonic Dystrophy |
| | | Phenotypes of Gennarelli et al in Myotonic Dystrophy |
| | | Posterior Probability of Myotonic Dystrophy Phenotype Based on CTG Number |
| Alkaptonuria |
| | | Clinical Findings in a Patient with Alkaptonuria |
| | | Conditions Other Than Alkaptonuria Associated with Ochronosis |
| Lysosomal Storage Diseases |
| | | Clinical Features of Fabry Disease (Deficiency of alpha-Galactosidase A) |
| | | Clinical Features of Mucopolysaccharidosis Type I (MPS I, Hurler, Hurler-Scheie, Scheie Syndromes) |
| | | Clinical Phenotypes of Gaucher Disease |
| | | Radiologic Stages of Bone Lesions in Patients with Gaucher Disease Type 1 |
| | | Clinical Features of Niemann-Pick Disease Type A Phenotype |
| | | Clinical Features of Niemann-Pick Disease Type B Phenotype |
| | | Clinical Features of the Classic Niemann-Pick Disease Type C Phenotype |
| | | Staging System of Escolar et al for Infantile Krabbe Disease (Globoid Cell Leukodystrophy) |
| | | Indications for Enzyme Replacement Therapy with Imiglucerase in a Patient with Type I Gaucher's Disease |
| | | Severity Scoring Index of Zimran et al for a Patient with Gaucher's Disease |
| Albinism |
| | | Clinical Features of the Hermansky-Pudlak Syndrome |
| | | Clinical Features of Tyrosinase-Deficient Oculocutaneous Albinism (OCA1) |
| | | Clinical Features of P-Related Oculocutaneous Albinism (OCA2) |
| Refsum Disease (Heredopathia Atactica Polyneuritiformis) |
| | | Clinical Findings in a Patient with Refsum Disease |
| Bloom Syndrome |
| | | Patients Who Should Be Screened for Bloom Syndrome |
| Hereditary Disorders of Carbohydrate Metabolism |
| | | Clinical Features of Hereditary Fructose Intolerance |
| | | Clinical Features of Classical Galactosemia (Deficiency of Galactose-1-Phosphate Uridyltransferase, GALT) |
| Genetic Syndromes Associated with a Defect in Nucleotide Excision Repair |
| | | Clinical Features of Xeroderma Pigmentosum |
| | | Clinical Features of Cockayne Syndrome |
| Hereditary Disorders of Platelets |
| | | Clinical Features of Chediak-Higashi Syndrome |
| | | Clinical Features of the Bernard-Soulier Syndrome |
| | | Clinical Features of the Montreal Platelet Syndrome |
| | | The May-Hegglin Anomaly and Fechtner Syndrome |
| | | Clinical Features of Glanzmann's Thrombasthenia |
| | | Algorithm from the Gruppo di Studio delle Piastrine for Identifying Inherited Thrombocytopenias with Syndromic Features |
| | | Algorithm from the Gruppo di Studio delle Piastrine for Identifying Inherited Thrombocytopenias with Nonsyndromic Features |
| Ataxia-Telangiectasia (A-T) |
| | | Clinical Features of Ataxia-Telangiectasia (A-T) |
| Bloch-Sulzberger Syndrome (Incontinentia Pigmenti, IP) |
| | | Criteria of Landy and Donnai for the Diagosis of Incontinentia Pigmenti in a Patient with a First Degree Female Relative with Inontinentia Pigmenti |
| | | Criteria of Landy and Donnai for the Diagosis of Sporadic Incontinentia Pigmenti |
| | | Stages of Cutaneous Lesions in Incontinentia Pigmenti |
| Clinical Findings in the Williams-Beuren Syndrome |
| | | Clinical Findings in the Williams-Beuren Syndrome |
| Determining the Gender of a Patient |
| | | Drumsticks and Other Nuclear Changes in White Blood Cells Associated with Gender |
| | | Barr Body (Sex Chromatin in Somatic Cells) |
| Lesch-Nyhan Disease and Other Deficiencies in Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Activity |
| | | Clinical Features of the Lesch-Nyhan Disease |
| Hereditary Disorders of the Lipoproteins |
| | | Clinical Features of Abetalipoproteinemia |
| Metachromatic Leukodystrophy (MLD) |
| | | Clinical Stages of Hagberg for Infantile Metachromatic Leukodystrophy |
| Aarskog-Scott Syndrome |
| | | Clinical Features of the Aarskog-Scott Syndrome |
| Hereditary Defects in Biotin Metabolism |
| | | Clinical Features of Holocarboxylase Synthetase Deficiency |
| | | Clinical Features of Biotinidase Deficiency |
| IPEX Syndrome (Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked Syndrome) |
| | | IPEX Syndrome (Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked Syndrome) |
| Hereditary Sensory and Autonomic Neuropathies (HSAN) |
| | | Clinical Features of Familial Dysautonomia (Riley-Day Syndrome) |
| Congenital Hepatorenal Fibrocystic (HRFC) Syndromes |
| | | Clinical Features of Meckel-Gruber Syndrome |
| McCune-Albright Syndrome |
| | | Clinical Features of the McCune-Albright Syndrome (Osteitis Fibrosa Cystica) |
| Joubert Syndrome |
| | | Criteria of Maria et al for Joubert Syndrome |
| | | Criteria of Saraiva and Baraitser for Joubert Syndrome |
| Cohen Syndrome |
| | | Criteria of Chandler et al for Cohen Syndrome |
| | | Criteria of Kolehmainen et al for Cohen Syndrome |
| LEOPARD Syndrome |
| | | Clinical Features of the LEOPARD Syndrome |
| Holoprosencephaly-Polydactyly Syndrome (Pseudo-Trisomy 13) |
| | | Criteria of Lurie and Wulfsberg for the Holoprosencephaly-Polydactyly Syndrome |
| Walker-Warburg Syndrome |
| | | Diagnostic Criteria of Dobyns et al for the Walker-Warburg Syndrome |
| Rothmund-Thomson Syndrome and Related Conditions |
| | | Criteria of Wang and Plon for the Rothmund-Thomson Syndrome |
| | | Clinical Features of RAPADILINO |
| Kindler Syndrome |
| | | Criteria of Angelova-Fischer et al for Kindler Syndrome |
| Barth Syndrome |
| | | Clinical Features of Spencer et al for Barth Syndrome |
| Mulibrey Nanism (Perheentupa Syndrome) |
| | | Clinical Features of Mulibrey Nanism |
| Smith-Lemli-Opitz Syndrome |
| | | Clinical and Laboratory Features of the Smith-Lemli-Opitz Syndrome |
| | | Types of the Smith-Lemli-Opitz Syndrome |
| Seckel Syndrome |
| | | Clinical Features of Seckel Syndrome |
| Rubinstein-Taybi Syndrome (RTS) |
| | | Clinical Features of the Rubinstein-Taybi Syndrome |
| | | Algorithm of Hennekam for the Diagnosis of Rubinstein-Tabyi Syndrome |
| Menkes Syndrome (Menkes Kinky Hair Syndrome) |
| | | Clinical Features of Menkes Syndrome |
| X-Linked Adrenoleukodystrophy (XALD) |
| | | Neurological Score of Baumann et al a Patient with X-Linked Adrenoleukodystrophy |
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