Presentation is loading. Please wait.

Presentation is loading. Please wait.

Molecular testing for the trinucleotide repeats in fragile X syndrome

Published byMarvin Paul Modified over 6 years ago

Similar presentations

Presentation on theme: "Molecular testing for the trinucleotide repeats in fragile X syndrome"— Presentation transcript:

1 Molecular testing for the trinucleotide repeats in fragile X syndrome
Molecular testing for the trinucleotide repeats in fragile X syndrome. Shown are 3 chromatograms depicting repeat number. (a) Normal female. Note the two peaks, one for each X chromosome. (b) Normal male. One peak, one X chromosome. (c) Male with full expansion. This individual has over 200 CGG repeats noted by the large displaced peak. (Chromatograms courtesy of Dr. Jennifer Wei, Ambry Genetics.) Source: Atypical Modes of Inheritance, Medical Genetics: An Integrated Approach Citation: Schaefer G, Thompson, Jr. JN. Medical Genetics: An Integrated Approach; 2017 Available at: Accessed: December 26, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved

Download ppt "Molecular testing for the trinucleotide repeats in fragile X syndrome"

Similar presentations

Kathryn Clark Tanya Tyler Divya Trehan Shalini Kochicheril

Kathryn Clark Tanya Tyler Divya Trehan Shalini Kochicheril
CMS-1500 Outpatient Medical Service Claim Form

CMS-1500 Outpatient Medical Service Claim Form
Transverse illustration of the upper abdomen that demonstrates the dependent compartments where free intraperitoneal fluid may collect (A). A transverse.

Transverse illustration of the upper abdomen that demonstrates the dependent compartments where free intraperitoneal fluid may collect (A). A transverse.
Color Doppler. Color Doppler measures the frequency shift and displays it as color over the gray scale image. Note the color scale to the left of the ultrasound.

Color Doppler. Color Doppler measures the frequency shift and displays it as color over the gray scale image. Note the color scale to the left of the ultrasound.
Corneal filaments in a 56-year-old patient with dry eye syndrome.

Corneal filaments in a 56-year-old patient with dry eye syndrome.
Morphologic appearance of EH skin. Shown is a semithin section (0

Morphologic appearance of EH skin. Shown is a semithin section (0
A widely displaced fracture of the distal radius

A widely displaced fracture of the distal radius
Bone x-ray film of GM1 gangliosidosis patients

Bone x-ray film of GM1 gangliosidosis patients
A section of the cerebellum stained with Sevier-Munger preparation from the brain of a 10-year-old SCA1 patient with 82 CAG repeats who died after 6 years.

A section of the cerebellum stained with Sevier-Munger preparation from the brain of a 10-year-old SCA1 patient with 82 CAG repeats who died after 6 years.
Translocations predisposing to the occurrence of Down syndrome

Translocations predisposing to the occurrence of Down syndrome
Mechanisms leading to Down syndrome

Mechanisms leading to Down syndrome
Translocations predisposing to the occurrence of Down syndrome

Translocations predisposing to the occurrence of Down syndrome
Representation of Southern blot analysis revealing an expanding triplet repeat mutation in a myotonic dystrophy family. A grandmother and mother with the.

Representation of Southern blot analysis revealing an expanding triplet repeat mutation in a myotonic dystrophy family. A grandmother and mother with the.
Some of the organisms that are used as highly informative models to study gene action and development. (a) Escherichia coli is a common bacterium; (b)

Some of the organisms that are used as highly informative models to study gene action and development. (a) Escherichia coli is a common bacterium; (b)
Newborn with Pompe disease. (a) Note severe hypotonia

Newborn with Pompe disease. (a) Note severe hypotonia
Basal and peak serum thyrotropin (TSH) concentrations following intravenous administration of 500 μg thyrotropin-releasing factor (TRF) to subjects with.

Basal and peak serum thyrotropin (TSH) concentrations following intravenous administration of 500 μg thyrotropin-releasing factor (TRF) to subjects with.
The use of negative pressure wound therapy to manage a dehisced abdominal wound. (VAC device shown courtesy of Kinetic Concepts, Inc., San Antonio, TX.)

The use of negative pressure wound therapy to manage a dehisced abdominal wound. (VAC device shown courtesy of Kinetic Concepts, Inc., San Antonio, TX.)
Patients exhibiting the spectrum of cleft lip and palate

Patients exhibiting the spectrum of cleft lip and palate
Representative human/animal viruses. A. Poliovirus. B. Simian virus 40

Representative human/animal viruses. A. Poliovirus. B. Simian virus 40
(Used, with permission, of Dr Thomas Cremer, Department of Biology II, Anthropology and Human Genetics, Ludwig Maximilian University, Munich, Germany.)

(Used, with permission, of Dr Thomas Cremer, Department of Biology II, Anthropology and Human Genetics, Ludwig Maximilian University, Munich, Germany.)

Similar presentations

Ads by Google