Diagnosis Of Achondroplasia PowerPoint PPT Presentations

Achondroplasia By: Tyler Denney, Avery Falick, Valerie Finstad, Matt Lien Type of Genetic Disorder Achondroplasia is an autosomal dominant genetic disorder.

Achondroplasia is a bone disease which affects about 1 in every 10,000 infants. This disease is caused by a mutation in the FGFR3 gene that impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull.

Achondroplasia is a bone disease which affects about 1 in every 10,000 infants. This disease is caused by a mutation in the FGFR3 gene that impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull.

Molecular Diagnosis In Oncology & Genetics Diagnostic Molecular Pathology USE OF: Sequence Specific INFORMATION in MACROMOLECULES for Risk identfication Diagnosis ...

Achondroplasia Dwarfism How to recognize achondroplasia: Long narrow torso, with short extremities Large head with an oversized forehead Fingers shortened ...

Affects about 1 in 25,000 people. ... nonproportional dwarfism. shortening of the proximal limbs (called rhizomelic shortening) ...

Presented by: Britt Shields and Connor Nash Achondroplasia is the common cause of dwarfism Approximately 1 in every 25,000 have this disorder The average height of a ...

... (males more severely affected)(disproportionate) Turner Syndrome (45,X) (proportionate) Laron Dwarfism Insensitivity to growth hormone (receptor defect) ...

Autosomal dominant- if you have one copy of the mutated gene, ... respiratory problems, clubfeet, hitchhiker's thumb, and ears with a cauliflower appearance ...

Thereafter 2.5' per year until puberty. Final adult height. Mid-parental height 2' for boys and -2' for girls. Short stature ...

Mutations (chemical changes) within a single gene cause achondroplasia. ... Lordosis and/or kyphosis. Hydrocephalus ('water on the brain' ...

This presentation will cover all aspect of achondroplasia.

Natural History of Achondroplasia Autosomal Dominant Gene Mutation Future Therapies Counteract the overactive FGFR3 effects on endochondral bone formation.

SKELETAL AND SOFT TISSUE DISEASE-BONE Achondroplasia Genetic derangement in epiphyseal cartilaginous growth Retarded endochondral bone formation,

Molecular diagnosis of ... in the ASO and LSO sequences The resultant PCR products are hybridized and read out on an array of universal-capture probes Molecular ...

Your genes can be compared to your own personal blueprint. ... Achondroplasia (common Dwarfism) Familial (early-onset) Alzheimer Disease. Huntington Disease ...

Recurrent URI's including AOM x 3 (eventually leading to diagnosis of mild, ... FH: 4 y/o brother had Kawasaki's, now doing well. Uncle with asthma. ...

You tell the infant's parents of your concern that their baby has Down syndrome. ... Following the clinical diagnosis of Down syndrome, it's essential to obtain a ...

FOR MORE CLASSES VISIT www.hca240mart.com HCA 240 Assignment: Blood Disorders HCA 240 Exercise: Name That Pathogen HCA 240 CheckPoint: Nervous System Diseases HCA 240 CheckPoint: Nutrition and the Food Pyramid HCA 240 CheckPoint 2: Radio Ad HCA 240 WEEK 1 Discussion Question 1 HCA 240 WEEK 1 Discussion Question 2 HCA 240 WEEK 3 Discussion Question 1 HCA 240 WEEK 3 Discussion Question 2 HCA 240 WEEK 5 Discussion Question 1 HCA 240 WEEK 5 Discussion Question 2 HCA 240 WEEK 7 Discussion Question 1 HCA 240 WEEK 7 Discussion Question 2 HCA 240 CheckPoint: Diagnosis and Treatment

For more classes visit www.snaptutorial.com HCA 240 Assignment: Blood Disorders HCA 240 Exercise: Name That Pathogen HCA 240 CheckPoint: Nervous System Diseases HCA 240 CheckPoint: Nutrition and the Food Pyramid HCA 240 CheckPoint 2: Radio Ad HCA 240 WEEK 1 Discussion Question 1 HCA 240 WEEK 1 Discussion Question 2 HCA 240 WEEK 3 Discussion Question 1 HCA 240 WEEK 3 Discussion Question 2 HCA 240 WEEK 5 Discussion Question 1 HCA 240 WEEK 5 Discussion Question 2 HCA 240 WEEK 7 Discussion Question 1 HCA 240 WEEK 7 Discussion Question 2 HCA 240 CheckPoint: Diagnosis and Treatment HCA 240 CheckPoint: Kidney Failure HCA 240 Assignment: HIV/AIDS: An Overview HCA 240 Assignment: Mental Illness Paper HCA 240 Final Project: Public Awareness and Human Diseases

LECTURE 5 M. Faiyaz-Ul-Haque, PhD, FRCPath Genetic Counseling * 5 * Fig 29.4 Punnett square showing the Hardy-Weinberg principle. Lecture Objectives By the end of ...

LECTURE 5 M. Faiyaz-Ul-Haque, PhD, FRCPath Genetic Counseling

Why there is concern for genetic disorders? Contact -Jindal IVF Chandigarh

... doesn't depend on renal function- can be normal with BRA ... BRA usually sporadic. There are autosomal dominant forms: sono kidneys of close family members ...

There are way to many types of Dwarfism for me to go over in this short amount ... Hitchhikers thumb. Ears with a cauliflower appearance. Growth-Hormone Deficiency ...

Medical, social, ethical, legal issues generated ... Basic research. Applied testing of new research. Consumer input (symposia) ...

Title: Slide 1 Author: SUPERVISOR Last modified by: Supervisor Created Date: 4/10/2005 9:40:51 PM Document presentation format: On-screen Show Company

GANGGUAN PERTUMBUHAN PADA ANAK Gangguan pertumbuhan Perawakan normal pertumbuhan terganggu Gangguan pertumbuhan Perawakan pendek pertumbuhan normal ETIOLOGI PERAWAKAN ...

... www.java-imperium.de/animierte-gifs/models/Angelina-Jolie/1.htm. Tony's Stuff. http://www.tonystuff.co.uk/raider/jolie.htm. Dunas.com. http://www.dunas.com/angie4. ...

Turner Syndrome Consider in all girls with ... PRADER-WILLI, NOONAN, SECKEL, de LANGE, LARON, COCKAYNE dll PERAWAKAN PENDEK VARIAN NORMAL FAMILIAL SS ...

Definition: the analysis of human DNA, RNA, chromosomes, proteins, and certain ... A patient who diagnosed Acute intermittent porphyria biochemically ...

Unable to digest galactose because missing or have low quantities of a certain enzyme ... Chorionic villus sampling involves taking tissue surrounding the fetus ...

Title: Genetic Counselling and Genetic Testing Author: Christine Davies Last modified by: Jesse Created Date: 3/13/2004 1:51:59 AM Document presentation format

Excision, grafting and compression with external fixation/intramedullary fixation ... Nasal flattening (frontal bossing and midfacial hypoplasia) ...

... aortic root dilatation ... cerebral hemorrhage 45 AAA 45 ?valve replacement ... Oh JK, Sundt III TM, Eagle KA. Acute Aortic Syndromes and Thoracic Aortic ...

LECTURE 4 M. Faiyaz-Ul-Haque, PhD, FRCPath Atypical Patterns of Inheritance

No Problem Dude. The nature of insurance. Premium proportional to mortality risk ... Is it unethical to fertilize eggs in a Petri dish? Test tube babies ...

Webbased resources for the Clinical geneticist

LECTURE 4 M. Faiyaz-Ul-Haque, PhD, FRCPath Atypical Patterns of Inheritance

The medical franchise of Veklich company resembles a from of cooperation between companies in which the franchiser (the owner of Veklich trademark) passes his knowledge, the brand, technology, patent and successful business model to his partner – the franchisee, on a costreimbursable basis. At the same time, the franchisee remains an independent legal entity.

Title: Molecular Pathology Author: user Last modified by: SSC1 Created Date: 11/24/2005 6:32:37 PM Document presentation format: On-screen Show (4:3)

LECTURE 4 M. Faiyaz-Ul-Haque, PhD, FRCPath Atypical Patterns of Inheritance

29284 SKELETAL DYSPLASIAS: DIAGNOSTICS AND TREATMENT I. Marik1, D. Zemkova1,2, M. Kuklik1, R. Myslivec1, S. Petrasova1, O. Hudakova & A. Marikova1

john.loughlin@ndos.ox.ac.uk. http://www.ndos.ox.ac.uk/ogg/ Recommended reading list - textbooks ... Garland Publishing, ISBN 0-8153-4182-2. Journals ...

OSA in Children Katie McKie, MD GHSU Pediatric Pulmonology & Sleep Medicine (2 to 8 is peak age of lymphoid hyperplasia and T&A hypertrophy) * No Disclosures ...

DISLOCATION OF HIP . The term congenital is replaced by developmental because not all cases appear at birth , in addition, postnatal factors contribute to produce hip ...

Pediatric Obstructive Sleep Apnea Stuart Morgenstein, D.O. Hospital Admission Post-op Age less than 3 yo AHI elevated (?? 10) Elevated End-tidal pCO2 O2 Nadir 80% ??

Title: Hydrodynamic Blocade at the level of the CranioVertebral Junction (62%) Author: Michel ZERAH Last modified by: Michel ZERAH Created Date

high-pitched cry sounds like a cat (for which the syndrome was named) ... Trisomy 21 Down Syndrome. Symptoms. Small stature. Mild to moderate mental retardation ...

BONE PATHOLOGY * * * * * * Osteoporotic vertebral body (right) shortened by compression fractures, compared with a normal vertebral body. * Vertebrae, osteoporosis ...

growth&development

For more classes visit www.snaptutorial.com HCA 240 Assignment: Blood Disorders HCA 240 Exercise: Name That Pathogen HCA 240 CheckPoint: Nervous System Diseases HCA 240 CheckPoint: Nutrition and the Food Pyramid HCA 240 CheckPoint 2: Radio Ad HCA 240 WEEK 1 Discussion Question 1 HCA 240 WEEK 1 Discussion Question 2 HCA 240 WEEK 3 Discussion Question 1 HCA 240 WEEK 3 Discussion Question 2

For more classes visit www.snaptutorial.com HCA 240 Assignment: Blood Disorders HCA 240 Exercise: Name That Pathogen HCA 240 CheckPoint: Nervous System Diseases

Patologia Molecolare ...

... (ALD) Haemophilia DMD/BMD X-linked icthyosis Menkes Retts Ambiguous ... Autosomal dominant disease with reduced penetrance ~ 30-40% of offspring ...

Carl Correns crossed white snapdragons with red snapdragons According to Mendelian genetics, ... Chapter 11 Complex Inheritance and Human Heredity Author: