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
[edit | edit source]Disorder Counseling Outlines
[edit | edit source]0-9
[edit | edit source]- 1p36 Deletion Syndrome (outline 1)
- 1p36 Deletion Syndrome (outline 2)
- 18q Deletion Syndrome
- 22q11 Deletion Syndrome
A
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]- Echogenic Bowel
- Ehlers-Danlos Syndrome
- Ehlers-Danlos Syndrome (outline 2)
- Ehlers-Danlos Syndrome (outline 3)
- Epilepsy and Seizures
- Ewing's Sarcoma
F
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]J
[edit | edit source]K
[edit | edit source]L
[edit | edit source]M
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]- 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
Q
[edit | edit source]R
[edit | edit source]- Reciprocal Translocation
- Renal Cell Carcinoma
- Retinoblastoma
- Rett Syndrome
- Ring Chromosome 22
- Robin Sequence
- Russell Silver Syndrome
S
[edit | edit source]- 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
[edit | edit source]- 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)
U
[edit | edit source]V
[edit | edit source]- 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
[edit | edit source]X
[edit | edit source]Y
[edit | edit source]Z
[edit | edit source]Sample Counseling Letters
[edit | edit source]Useful Resources
[edit | edit source]Copyright
[edit | edit source]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.
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