Genetic Counseling .docx - Itzel Olivas Aniya Lewis-Bey...

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Itzel OlivasAniya Lewis-BeyAmanda Cortinas2ndperiodCASE #345673W- The Jefferson FamilyDescription:Fragile X Syndrome is a genetic condition that causes a range of developmental problincluding learning disabilities, and cognitive impairment. Usually, males are more severely affectethis disorder than females. Affected individuals usually have delayed development of speech andlanguage by age 2.Fragile X syndrome is caused by a defect or mutation in the FMR1 gene found in the X chromosommutation causes the FMR1 gene to prevent the gene from properly making a protein called the framental retardation 1 protein. The protein plays a role in the nervous system. A lack or shortage ofprotein causes the symptoms characteristics of fragile X syndrome.SymptomsDelays in talkingAnxietyHyperactive behaviorLarge earsA long faceA prominent jaw and foreheadFlat feetPeople may experienceBehavioral: aggression, hyperactivity, impulsivity, nonsense word repetition, repetitimovements, self-harm, or persistent repetition of words or actions. Developmental:learning disability or speech delay in a child.Muscular: flaccid muscles or problems with coordination. Also common:large ears, speech impairment, anxiety, double jointed, enlarged head,enlarged testicles, flat feet, lazy eye, long thin face, prominent jaw, scoliosis, singleon palm, sleep disorder, sunken chest, or tremor.TreatmentsTherapies: A therapy focused on modifying harmful behaviors associated withpsychological distress.
Itzel OlivasAniya Lewis-BeyAmanda Cortinas2ndperiodMedications: SedativeCauses drowsiness, calmness, and dulled senses. Some types mabecome addictive.Muscle relaxant:Reduces muscle tension and helps relieve muscle pain and discomforCognition-enhancing medication: Improves mental function, lowers blood pressure,and may balance mood.Specialists: includes a speech therapist, occupational therapist, pediatrician, medicageneticists, and a physical therapist.Karyotype and PedigreeKaryotype for someone with Fragile X syndrome, the X chromosome has an abnormality.
Itzel OlivasAniya Lewis-BeyAmanda Cortinas2ndperiodThe Pedigree shows that Mrs. Jefferson’s mom was the possible carrier for the Fragile XSyndrome. This led to Alton’s mom and two of her sisters being possible carriers for thesyndrome. Alton was affected by the Fragile X syndrome since his mom was a carrier of thsyndrome. For the sister that is pregnant, her child will not be affected with the Fragile XSyndrome. The mom is dominant over the dad which caused three of their daughters to be

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Term
Fall
Professor
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Tags
Mental retardation, Y chromosome, Fragile X syndrome

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