# 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

## Disorder Counseling Outlines
### 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.

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