Handbook of Genetic Counseling

__TOC__ This book is designed as an introduction to the discipline and practice of genetic counseling. The text provides an introduction to genetic counseling as a clinical practice and includes sample counseling outlines and letters for students of genetic counseling. Additional outline and letter examples are highly encouraged. Introduction Introduction 00% November 8, 2005 Counseling Methods 00% November 8, 2005 Counseling Theory 00% November 8, 2005 Disorder Counseling Outlines 0-9 1p36 Deletion Syndrome (outline 1) 100% November 8, 2005 1p36 Deletion Syndrome (outline 2) 100% November 8, 2005 18q Deletion Syndrome 100% November 8, 2005 22q11 Deletion Syndrome 100% November 8, 2005 A Abnormal Triple Screen and Family History of PKD 100% November 8, 2005 Achondroplasia (outline 1) 100% November 8, 2005 Achondroplasia (outline 2) 100% November 8, 2005 Acrofacial Dysostosis Syndrome 100% November 8, 2005 Advanced Maternal Age - Amniocentesis 100% November 8, 2005 Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 1) 100% November 8, 2005 Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 2) 100% November 8, 2005 Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 3) 100% November 8, 2005 Allergies and Asthma 100% November 8, 2005 Alpha 1 Antitrypsin Deficiency 100% November 8, 2005 Alpha Thalassemia 100% November 8, 2005 Alport Syndrome 100% November 8, 2005 Amyotrophic Lateral Sclerosis 100% November 8, 2005 Androgen Insensitivity Syndrome 100% November 8, 2005 Anencephaly 100% November 8, 2005 Angelman Syndrome (outline 1) 100% November 8, 2005 Angelman Syndrome (outline 2) 100% November 8, 2005 AR Sensorineural Hearing Loss (DFNB1/Connexin 26) 100% November 8, 2005 Arthrogryposis 100% November 8, 2005 Autism (outline 1) 100% November 8, 2005 Autism (outline 2) 100% November 8, 2005 Autism (outline 3) 100% November 8, 2005 B Balanced Robertsonian Translocation 100% November 8, 2005 Balanced Translocation 100% November 8, 2005 Bardet-Biedl Syndrome (outline 1) 100% November 8, 2005 Bardet-Biedl Syndrome (outline 2) 100% November 8, 2005 Beal's Syndrome 100% November 8, 2005 Becker Muscular Dystrophy 100% November 8, 2005 Beckwith-Wiedemann Syndrome 100% November 8, 2005 Beta-Thalassemia 100% November 8, 2005 Bloom Syndrome (outline 1) 100% November 8, 2005 Bloom Syndrome (outline 2) 100% November 8, 2005 Breast Cancer - Ashkenazi Jew 100% November 8, 2005 C CADASIL 100% November 8, 2005 Canavan Disease: Heterozygote Screening 100% November 8, 2005 Cancer 100% November 8, 2005 Celiac Disease 100% September 2006 Cerebral Palsy 100% November 8, 2005 CHARGE Association 100% November 8, 2005 Chondrodysplasia Punctata 100% November 8, 2005 Chorionic Villus Sampling (CVS) 100% November 8, 2005 Choroid Plexus Cysts on Ultrasound 100% November 8, 2005 Classical Myotonic Dystrophy 100% November 8, 2005 Cleft Lip and Palate 100% November 8, 2005 Cleft Lip - Isolated, Unilateral, Incomplete 100% November 8, 2005 Cleft Lip - Isolated, Unilateral, Incomplete (outline 1) 100% November 8, 2005 Cleft Lip - Isolated, Unilateral, Incomplete (outline 2) 100% November 8, 2005 Coffin-Lowry Syndrome 100% November 8, 2005 Colon Cancer Prophylactic Surgery 100% November 8, 2005 Colorectal Cancer Chemoprevention 100% November 8, 2005 Congenital Diaphragmatic Hernia 100% November 8, 2005 Cornelia de Lange Syndrome 100% November 8, 2005 Cowden Syndrome 100% November 8, 2005 Craniosynostosis (outline 1) 100% November 8, 2005 Craniosynostosis (outline 2) 100% November 8, 2005 Cri-du-chat syndrome - deletion 5p 100% November 8, 2005 Cystic Fibrosis Carrier Screening (outline 1) 100% November 8, 2005 Cystic Fibrosis Carrier Screening (outline 2) 100% November 8, 2005 Cystic Fibrosis - Prenatal Diagnosis (outline 1) 100% November 8, 2005 Cystic Fibrosis - Prenatal Diagnosis (outline 2) 100% November 8, 2005 D Developmental Delay and Intellectual Disability (outline 1) 100% November 8, 2005 Developmental Delay and Intellectual Disability (outline 2) 100% November 8, 2005 Diabetes in Pregnancy 100% November 8, 2005 Diabetes Mellitus 100% November 8, 2005 Diabetic Embryopathy 100% November 8, 2005 Down Syndrome - Trisomy 21 (outline 1) 100% November 8, 2005 Down Syndrome - Trisomy 21 (outline 2) 100% November 8, 2005 Duchenne Muscular Dystrophy (outline 1) 100% November 8, 2005 Duchenne Muscular Dystrophy (outline 2) 100% November 8, 2005 Dysmorphic Features - Developmental Delay 100% November 8, 2005 Dysmorphic Features - Hypotonia 100% November 8, 2005 E Echogenic Bowel 100% November 8, 2005 Ehlers-Danlos Syndrome 100% November 8, 2005 Ehlers-Danlos Syndrome (outline 2) 100% November 8, 2005 Ehlers-Danlos Syndrome (outline 3) 100% November 8, 2005 Epilepsy and Seizures 100% November 8, 2005 Ewing's Sarcoma 100% November 8, 2005 F Fabry Disease 100% November 8, 2005 Familial Adenomatous Polyposis (outline 1) 100% November 8, 2005 Familial Adenomatous Polyposis (outline 2) 100% November 8, 2005 Fanconi Anemia 100% November 8, 2005 Fetal Alcohol Syndrome 100% November 8, 2005 Fetal Hydantoin Syndrome 100% November 8, 2005 Fetal Dilantin-Keppra Syndrome 100% November 8, 2005 Fetal Valproate Syndrome 100% November 8, 2005 FG Syndrome 100% November 8, 2005 FG Syndrome (outline 2) 100% November 8, 2005 First Trimester Screening 100% November 8, 2005 Fragile X Syndrome 100% November 8, 2005 Friedreich Ataxia 100% November 8, 2005 Frontonasal Dysplasia - Median Cleft Face Syndrome 100% November 8, 2005 Handbook of Genetic Counseling/FISH 100% october 6, 2006 G Galactosemia (outline 1) 100% November 8, 2005 Galactosemia (outline 2) 100% November 8, 2005 Gastroschisis 100% November 8, 2005 Gaucher Disease (outline 1) 100% November 8, 2005 Gaucher Disease (outline 2) 100% November 8, 2005 Gaucher Disease (outline 3) 100% November 8, 2005 Genes and Chromosomes 100% November 8, 2005 Gorlin - Nevoid Basal Cell Carcinoma Syndrome 100% November 8, 2005 H Hearing loss - Unknown Cause 100% November 8, 2005 Heart Defects - Isolated 100% November 8, 2005 Hemifacial Microsomia 100% November 8, 2005 Hemoglobin C 100% November 8, 2005 Hemoglobinopathy Screening and Hemoglobin D-Punjab 100% November 8, 2005 Hemophilia and Von Willebrand Disease 100% November 8, 2005 Hereditary Breast Cancer - BRCA1 and BRCA2 100% November 8, 2005 Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Lobular Carcinoma In Situ (LCIS) 100% November 8, 2005 Hereditary Nonpolyposis Colorectal Cancer (HNPCC) 100% November 8, 2005 Holoprosencephaly 100% November 8, 2005 Huntington Disease 100% November 8, 2005 Hyper-extensibility 100% November 8, 2005 Hypoplasia - Agenesis of the Corpus Callosum 100% November 8, 2005 Hypotonia - Developmental Delay 100% November 8, 2005 I IgA Nephropathy 100% November 8, 2005 Incontinence 100% November 8, 2005 Infertility 100% November 8, 2005 J K Keratoconus 100% November 8, 2005 Klinefelter Syndrome 100% November 8, 2005 Kartagener Syndrome L Lhermitte-Duclos disease 00% November 8, 2005 Lupron Exposure 100% November 8, 2005 M Marfan Syndrome 100% November 8, 2005 Maternal Serum Triple Screen (outline 1) 100% November 8, 2005 Maternal Serum Triple Screen (outline 2) 100% November 8, 2005 McCune Albright Syndrome 100% November 8, 2005 Medium-chain acyl-coenzyme A dehydrogenase Deficiency 100% November 8, 2005 Microcephaly 100% November 8, 2005 Miller Syndrome 100% November 8, 2005 Mosaic trisomy 21 - Transient Myleoproliferative Syndrome 100% November 8, 2005 Mucopolysacharidosis (MPS) 100% November 8, 2005 Multiple Pregnancy Loss 100% November 8, 2005 N Nager Syndrome 100% November 8, 2005 Neural Tube Defects 100% November 8, 2005 Neurofibromatosis - Type 1 (outline 1) 100% November 8, 2005 Neurofibromatosis - Type 1 (outline 2) 100% November 8, 2005 Neurofibromatosis - Type 1 (outline 2) 100% November 8, 2005 Neurofibromatosis - Type 2 100% November 8, 2005 Niemann-Pick Disease (outline 1) 100% November 8, 2005 Niemann-Pick Disease (outline 2) 100% November 8, 2005 Noonan Syndrome 100% November 8, 2005 O Oculo-Auriculo-Vertebral Spectrum 100% November 8, 2005 Opitz BBB - G Syndrome 100% November 8, 2005 Oral-Facial-Digital Syndrome - Type 1 100% November 8, 2005 Osteogenesis Imperfecta (OI) 100% November 8, 2005 Osteosarcoma and Li-Fraumeni Syndrome 100% November 8, 2005 Ovarian Cancer 100% November 8, 2005 P Pallister-Killian Syndrome "tetrasomy 12p" 100% November 8, 2005 Pancreatic Cancer 100% November 8, 2005 Partial Trisomy 11q (q14-q21) 100% November 8, 2005 Percutaneous Umbilical Blood Sampling (PUBS) 100% November 8, 2005 Phenylketonuria (PKU) 100% November 8, 2005 Pierre Robin Sequence - Cleft Palate 100% November 8, 2005 Pituitary Tumor 100% November 8, 2005 Polycystic Kidney Disease 100% November 8, 2005 Polydactyly and Syndactyly 100% November 8, 2005 Prader-Willi Syndrome - Prenatal 100% November 8, 2005 Prader-Willi Syndrome (outline 2) 100% November 8, 2005 Protein S Deficiency 100% November 8, 2005 Q R Reciprocal Translocation 100% November 8, 2005 Renal Cell Carcinoma 100% November 8, 2005 Retinoblastoma 100% November 8, 2005 Rett Syndrome 100% November 8, 2005 Ring Chromosome 22 100% November 8, 2005 Robin Sequence 100% November 8, 2005 Russell Silver Syndrome 100% November 8, 2005 S Smith-Magenis syndrome (SMS) 00% November 8, 2005 Sanfilippo syndrome 100% November 8, 2005 Scheie Syndrome 100% November 8, 2005 Seizure Medications 100% November 8, 2005 Septo-optic dysplasia 100% November 8, 2005 Short Chain Acyl-CoA Dehydrogenase (SCAD) 100% November 8, 2005 Short Stature 100% November 8, 2005 Sickle Cell Anemia 100% November 8, 2005 Smith-Lemli-Opitz Syndrome 100% November 8, 2005 Sotos Syndrome 100% November 8, 2005 Spina Bifida 100% November 8, 2005 Spinal Muscular Atrophy (SMA1) 100% November 8, 2005 Spontaneous Pregnancy Loss and X-chromosome Inactivation 100% November 8, 2005 Stickler Syndrome 100% November 8, 2005 T Tamoxifen - Selective Estrogen Response Modifiers (SERMS) 100% November 8, 2005 Tay-Sachs Disease 100% November 8, 2005 Treacher Collins 100% November 8, 2005 Trisomy 13 100% November 8, 2005 Trisomy 13 - Advanced Maternal Age - Occupational Exposures 100% November 8, 2005 Trisomy 18 100% November 8, 2005 Tuberous Sclerosis (outline 1) 100% November 8, 2005 Tuberous Sclerosis (outline 2) 100% November 8, 2005 Turner Syndrome (outline 1) 100% November 8, 2005 Turner Syndrome (outline 2) 100% November 8, 2005 U V VATER Association 100% November 8, 2005 Van Der Woude syndrome 00% February 2, 2006 Velo-Cardio-Facial Syndrome (VCF) 100% November 8, 2005 Velopharyngeal Inadequacy (VPI) 100% November 8, 2005 Vitamin C Deficiency 100% November 8, 2005 Von Gierkes Disease (Glycogen Storage Disease Type I) 100% November 8, 2005 Von Hippel-Lindau Syndrome 100% November 8, 2005 W Waardenburg Syndrome 100% November 8, 2005 X XXX Syndrome 100% November 8, 2005 Y Z Zellweger Syndrome 100% November 8, 2005 Sample Counseling Letters Useful Resources Wikipedia's list of genetic disorders Gene Clinics OMIM Directory Copyright Much of the information for this book was originally located at http://www.genesoc.com/counseling2 . That website is now defunct and the information and content from that site is being relocated here. Medical Disclaimer Reproductive health H 75%