Handbook of Genetic Counseling

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
 * Counseling Methods
 * Counseling Theory

0-9

 * 1p36 Deletion Syndrome (outline 1)
 * 1p36 Deletion Syndrome (outline 2)
 * 18q Deletion Syndrome
 * 22q11 Deletion Syndrome

A

 * Abnormal Triple Screen and Family History of PKD
 * Achondroplasia (outline 1)
 * Achondroplasia (outline 2)
 * Acrofacial Dysostosis Syndrome
 * Advanced Maternal Age - Amniocentesis
 * Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 1)
 * Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 2)
 * Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 3)
 * Allergies and Asthma
 * Alpha 1 Antitrypsin Deficiency
 * Alpha Thalassemia
 * Alport Syndrome
 * Amyotrophic Lateral Sclerosis
 * Androgen Insensitivity Syndrome
 * Anencephaly
 * Angelman Syndrome (outline 1)
 * Angelman Syndrome (outline 2)
 * AR Sensorineural Hearing Loss (DFNB1/Connexin 26)
 * Arthrogryposis
 * Autism (outline 1)
 * Autism (outline 2)
 * Autism (outline 3)

B

 * Balanced Robertsonian Translocation
 * Balanced Translocation
 * Bardet-Biedl Syndrome (outline 1)
 * Bardet-Biedl Syndrome (outline 2)
 * Beal's Syndrome
 * Becker Muscular Dystrophy
 * Beckwith-Wiedemann Syndrome
 * Beta-Thalassemia
 * Bloom Syndrome (outline 1)
 * Bloom Syndrome (outline 2)
 * Breast Cancer - Ashkenazi Jew

C

 * CADASIL
 * Canavan Disease: Heterozygote Screening
 * Cancer
 * Celiac Disease
 * Cerebral Palsy
 * CHARGE Association
 * Chondrodysplasia Punctata
 * Chorionic Villus Sampling (CVS)
 * Choroid Plexus Cysts on Ultrasound
 * Classical Myotonic Dystrophy
 * Cleft Lip and Palate
 * Cleft Lip - Isolated, Unilateral, Incomplete
 * Cleft Lip - Isolated, Unilateral, Incomplete (outline 1)
 * Cleft Lip - Isolated, Unilateral, Incomplete (outline 2)
 * Coffin-Lowry Syndrome
 * Colon Cancer Prophylactic Surgery
 * Colorectal Cancer Chemoprevention
 * Congenital Diaphragmatic Hernia
 * Cornelia de Lange Syndrome
 * Cowden Syndrome
 * Craniosynostosis (outline 1)
 * Craniosynostosis (outline 2)
 * Cri-du-chat syndrome - deletion 5p
 * Cystic Fibrosis Carrier Screening (outline 1)
 * Cystic Fibrosis Carrier Screening (outline 2)
 * Cystic Fibrosis - Prenatal Diagnosis (outline 1)
 * Cystic Fibrosis - Prenatal Diagnosis (outline 2)

D

 * Developmental Delay and Intellectual Disability (outline 1)
 * Developmental Delay and Intellectual Disability (outline 2)
 * Diabetes in Pregnancy
 * Diabetes Mellitus
 * Diabetic Embryopathy
 * Down Syndrome - Trisomy 21 (outline 1)
 * Down Syndrome - Trisomy 21 (outline 2)
 * Duchenne Muscular Dystrophy (outline 1)
 * Duchenne Muscular Dystrophy (outline 2)
 * Dysmorphic Features - Developmental Delay
 * Dysmorphic Features - Hypotonia

E

 * Echogenic Bowel
 * Ehlers-Danlos Syndrome
 * Ehlers-Danlos Syndrome (outline 2)
 * Ehlers-Danlos Syndrome (outline 3)
 * Epilepsy and Seizures
 * Ewing's Sarcoma

F

 * Fabry Disease
 * Familial Adenomatous Polyposis (outline 1)
 * Familial Adenomatous Polyposis (outline 2)
 * Fanconi Anemia
 * Fetal Alcohol Syndrome
 * Fetal Hydantoin Syndrome
 * Fetal Dilantin-Keppra Syndrome
 * Fetal Valproate Syndrome
 * FG Syndrome
 * FG Syndrome (outline 2)
 * First Trimester Screening
 * Fragile X Syndrome
 * Friedreich Ataxia
 * Frontonasal Dysplasia - Median Cleft Face Syndrome
 * Handbook of Genetic Counseling/FISH

G

 * Galactosemia (outline 1)
 * Galactosemia (outline 2)
 * Gastroschisis
 * Gaucher Disease (outline 1)
 * Gaucher Disease (outline 2)
 * Gaucher Disease (outline 3)
 * Genes and Chromosomes
 * Gorlin - Nevoid Basal Cell Carcinoma Syndrome

H

 * Hearing loss - Unknown Cause
 * Heart Defects - Isolated
 * Hemifacial Microsomia
 * Hemoglobin C
 * Hemoglobinopathy Screening and Hemoglobin D-Punjab
 * Hemophilia and Von Willebrand Disease
 * Hereditary Breast Cancer - BRCA1 and BRCA2
 * Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Lobular Carcinoma In Situ (LCIS)
 * Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
 * Holoprosencephaly
 * Huntington Disease
 * Hyper-extensibility
 * Hypoplasia - Agenesis of the Corpus Callosum
 * Hypotonia - Developmental Delay

I

 * IgA Nephropathy
 * Incontinence
 * Infertility

K

 * Keratoconus
 * Klinefelter Syndrome
 * Kartagener Syndrome

L

 * Lhermitte-Duclos disease
 * Lupron Exposure

M

 * Marfan Syndrome
 * Maternal Serum Triple Screen (outline 1)
 * Maternal Serum Triple Screen (outline 2)
 * McCune Albright Syndrome
 * Medium-chain acyl-coenzyme A dehydrogenase Deficiency
 * Microcephaly
 * Miller Syndrome
 * Mosaic trisomy 21 - Transient Myleoproliferative Syndrome
 * Mucopolysacharidosis (MPS)
 * Multiple Pregnancy Loss

N

 * Nager Syndrome
 * Neural Tube Defects
 * Neurofibromatosis - Type 1 (outline 1)
 * Neurofibromatosis - Type 1 (outline 2)
 * Neurofibromatosis - Type 1 (outline 2)
 * Neurofibromatosis - Type 2
 * Niemann-Pick Disease (outline 1)
 * Niemann-Pick Disease (outline 2)
 * Noonan Syndrome

O

 * Oculo-Auriculo-Vertebral Spectrum
 * Opitz BBB - G Syndrome
 * Oral-Facial-Digital Syndrome - Type 1
 * Osteogenesis Imperfecta (OI)
 * Osteosarcoma and Li-Fraumeni Syndrome
 * Ovarian Cancer

P

 * Pallister-Killian Syndrome "tetrasomy 12p"
 * Pancreatic Cancer
 * Partial Trisomy 11q (q14-q21)
 * Percutaneous Umbilical Blood Sampling (PUBS)
 * Phenylketonuria (PKU)
 * Pierre Robin Sequence - Cleft Palate
 * Pituitary Tumor
 * Polycystic Kidney Disease
 * Polydactyly and Syndactyly
 * Prader-Willi Syndrome - Prenatal
 * Prader-Willi Syndrome (outline 2)
 * Protein S Deficiency

R

 * Reciprocal Translocation
 * Renal Cell Carcinoma
 * Retinoblastoma
 * Rett Syndrome
 * Ring Chromosome 22
 * Robin Sequence
 * Russell Silver Syndrome

S

 * Smith-Magenis syndrome (SMS)
 * Sanfilippo syndrome
 * Scheie Syndrome
 * Seizure Medications
 * Septo-optic dysplasia
 * Short Chain Acyl-CoA Dehydrogenase (SCAD)
 * Short Stature
 * Sickle Cell Anemia
 * Smith-Lemli-Opitz Syndrome
 * Sotos Syndrome
 * Spina Bifida
 * Spinal Muscular Atrophy (SMA1)
 * Spontaneous Pregnancy Loss and X-chromosome Inactivation
 * Stickler Syndrome

T

 * Tamoxifen - Selective Estrogen Response Modifiers (SERMS)
 * Tay-Sachs Disease
 * Treacher Collins
 * Trisomy 13
 * Trisomy 13 - Advanced Maternal Age - Occupational Exposures
 * Trisomy 18
 * Tuberous Sclerosis (outline 1)
 * Tuberous Sclerosis (outline 2)
 * Turner Syndrome (outline 1)
 * Turner Syndrome (outline 2)

V

 * VATER Association
 * Van Der Woude syndrome
 * Velo-Cardio-Facial Syndrome (VCF)
 * Velopharyngeal Inadequacy (VPI)
 * Vitamin C Deficiency
 * Von Gierkes Disease (Glycogen Storage Disease Type I)
 * Von Hippel-Lindau Syndrome

W

 * Waardenburg Syndrome

X

 * XXX Syndrome

Z

 * Zellweger Syndrome

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.