Handbook of Genetic Counseling

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Contents 1 Introduction 2 Disorder Counseling Outlines 2.1 0-9 2.2 A 2.3 B 2.4 C 2.5 D 2.6 E 2.7 F 2.8 G 2.9 H 2.10 I 2.11 J 2.12 K 2.13 L 2.14 M 2.15 N 2.16 O 2.17 P 2.18 Q 2.19 R 2.20 S 2.21 T 2.22 U 2.23 V 2.24 W 2.25 X 2.26 Y 2.27 Z 3 Sample Counseling Letters 4 Useful Resources 5 Copyright

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.

[edit] Introduction

• Introduction
• Counseling Methods
• Counseling Theory

[edit] Disorder Counseling Outlines

[edit] 0-9

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

[edit] 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)

[edit] 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

[edit] 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)

[edit] D

• Developmental Delay and Mental Retardation (outline 1)
• Developmental Delay and Mental Retardation (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

[edit] E

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

[edit] 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

[edit] 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

[edit] 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

[edit] I

• IgA Nephropathy
• Incontinence
• Infertility

[edit] J

[edit] K

• Keratoconus
• Klinefelter Syndrome
• Kartagener Syndrome

[edit] L

• Lhermitte-Duclos disease
• Lupron Exposure

[edit] 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

[edit] 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

[edit] 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

[edit] P

• Pallister-Killian Syndrome
• 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

[edit] Q

[edit] R

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

[edit] 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

[edit] 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)

[edit] U

[edit] 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

[edit] W

• Waardenburg Syndrome

[edit] X

• XXX Syndrome

[edit] Y

[edit] Z

• Zellweger Syndrome

[edit] Sample Counseling Letters

[edit] Useful Resources

• Wikipedia's list of genetic disorders
• Gene Clinics
• OMIM Directory

[edit] Copyright

Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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.