PDF-(BOOK)-CHARGE Syndrome, Second Edition (Genetic Syndromcs and Communication Disorders)

CHARGE syndrome occurs in approximately 11000015000 births worldwide is extremely complex and has varied medical and physical manifestations It was first described in 1979 named in 1981 and in 2004 a gene for CHARGE was identified In addition to a host of other conditions most individuals have communicationrelated problems including hearing vision balance breathing swallowing and speech. Common Speech Disorders . Stuttering. Cluttering. Apraxia . Lisping. Articulation Disorders. Characteristics of a Speech Impairment. Articulation: . Decreased intelligibility, sound distortions, sound substitutions. Warm Up: 2/1/2017. Instructions: Turn in your Cornel notes on Mutation Types and Causes to the turn it in box on my desk & start working on answering the . questions below:. What is a mutation? . Genetic disorders can be due to any of the following factors:. A. Monogenetic Disorders: Caused by a mutation in a single gene. Autosomal. recessive alleles:. a. You may be a carrier and not know it, since the dominant allele masks the recessive.. CP Biology. Genetic Disorders. Major types of genetic disorders:. Autosomal. Single genes. Multiple genes. Sex-linked. Chromosome abnormalities. Autosomal Disorders. Autosomal genetic disorders . are caused by alleles on autosomes (chromosomes other than the sex chromosomes). autism. Dr.. Patrizia Bonaventura. Monmouth University . Department of Speech Pathology, . Educational . Counseling. and Leadership. SPEECH AND HEARING DISORDERS. SPEECH DISORDERS OCCUR. “When . a person is unable to produce speech sounds correctly or fluently, or has problems with his or her . Hereditary Nonpolyposis Colorectal Cancer HNPCCunderstanding lynch syndrome331e purpose of this booklet is to review information about Lynch syndrome also called Hereditary Nonpolyposis Colorectal Can Most genes are carried on the ___________, ______ chromosomes other than the sex chromosomes. These disorders affect males and females ________ and are due to _____ mutations. Autosomal disorders can be divided into three groups based on the pattern of inheritance.. Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . GENETIC. ENVIRONMENTAL. BOTH. CONGENITAL. HEREDITARY. FAMILAL. MUTATIONS. PERMANENT change in DNA. GENE. MUTATION: (may, and often, result in a single base error). CHROMOSOME . MUTATION: (visible chromosome change)part of chromosome. CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech-- CHARGE syndrome is thought to be caused by a mutation in the gene CHD7on chromosome #8. It occurs in 1 out of every 10,000 births and is affects males and females at equal rates and has been diagn ObjectivesRecognize the features of CHARGE syndromeIdentify the medical concerns in CHARGE syndrome CHARGE syndromeoloboma, eart defects, choanal tresia, etarded growth and development, enital abnorma Relatively common disorder caused by the loss of genetic material from one of the sex chromosomes. . Affects only females. Clinical features. Short stature (143-145cm tall). Loss of ovarian function. TERMINOLOGY OF GENETIC AND CONGENITAL DISORDERS. Congenital. Allele. Gene locus. Gene mutation. Genotype. Phenotype. Homozygous. Heterozygous. Polymorphism. Gene penetrance. Gene expression. CAUSES OF BIRTH DEFECTS.