Presentation is loading. Please wait.

Presentation is loading. Please wait.

Illustration of two individuals, one affected with Angelman and the other with Prader–Willi syndrome. The maternal and paternal regions of 15q11.2-13 illustrate.

Published byVictoria Holt Modified over 6 years ago

Similar presentations

Presentation on theme: "Illustration of two individuals, one affected with Angelman and the other with Prader–Willi syndrome. The maternal and paternal regions of 15q11.2-13 illustrate."— Presentation transcript:

1 Illustration of two individuals, one affected with Angelman and the other with Prader–Willi syndrome. The maternal and paternal regions of 15q illustrate how restriction enzymes can generate different size fragments that can be used to distinguish microdeletions or other abnormalities in the paternal or the maternal chromosome. For Angelman syndrome, absence of the maternal 15q region (or imprinting problems that interfere with appropriate methylation of this region) will result in smaller fragment sizes due to the action of the Not-1 enzyme on the paternal region. The reverse is the case with Prader–Willi syndrome. This and related methodologies are important initial screening tests for these conditions. Source: Chapter 21. Genetic Testing For Neurological Disorders, Pediatric Practice: Neurology Citation: Carney PR, Geyer JD. Pediatric Practice: Neurology; 2010 Available at: Accessed: December 19, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved

Download ppt "Illustration of two individuals, one affected with Angelman and the other with Prader–Willi syndrome. The maternal and paternal regions of 15q11.2-13 illustrate."

Similar presentations

Chromosome Disorders. Classification of genetic disorders  Single-gene disorders (2%)  Chromosome disorders (

Chromosome Disorders. Classification of genetic disorders  Single-gene disorders (2%)  Chromosome disorders (
Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes

Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes
Automatisms with preserved responsiveness were observed exclusively during seizures arising from the right nondominant temporal lobe. They were not observed.

Automatisms with preserved responsiveness were observed exclusively during seizures arising from the right nondominant temporal lobe. They were not observed.
Benign infantile seizures are characterized by (1) familial or nonfamilial occurrence; (2) normal development prior to onset; (3) onset mostly during the.

Benign infantile seizures are characterized by (1) familial or nonfamilial occurrence; (2) normal development prior to onset; (3) onset mostly during the.
Contrasting hypotheses of genomic imprinting in cancer

Contrasting hypotheses of genomic imprinting in cancer
Corneal filaments in a 56-year-old patient with dry eye syndrome.

Corneal filaments in a 56-year-old patient with dry eye syndrome.
Reproduced from Hadzic A

Reproduced from Hadzic A
Reproduced from Hadzic A

Reproduced from Hadzic A
(Source: Reprinted with permission from Kimura, Yukiko, Pain in children with rheumatic diseases. Curr Rheumatol Rep. 2006;8(6):486, fig. 1.) Source: Chapter.

(Source: Reprinted with permission from Kimura, Yukiko, Pain in children with rheumatic diseases. Curr Rheumatol Rep. 2006;8(6):486, fig. 1.) Source: Chapter.
Methods for site-directed mutagenesis

Methods for site-directed mutagenesis
A mild and inconsistent asymmetry of photic driving response is frequently seen in normal individuals. An asymmetry in photic driving response may result.

A mild and inconsistent asymmetry of photic driving response is frequently seen in normal individuals. An asymmetry in photic driving response may result.
Child marriage and maternal mortality: maternal mortality by age.10

Child marriage and maternal mortality: maternal mortality by age.10
CBZ is the most common antiepileptic drug (AED) causing AED-induced seizure worsening. CBZ can both aggravate and induce new seizure types including absence,

CBZ is the most common antiepileptic drug (AED) causing AED-induced seizure worsening. CBZ can both aggravate and induce new seizure types including absence,
The causes of OS are symptomatic or organic; the causes of EME can be genetic, metabolic, or entirely unknown. OS causes tonic spasms and partial seizures.

The causes of OS are symptomatic or organic; the causes of EME can be genetic, metabolic, or entirely unknown. OS causes tonic spasms and partial seizures.
Contrasting hypotheses of genomic imprinting in cancer

Contrasting hypotheses of genomic imprinting in cancer
Illustration of ways regression lines can differ

Illustration of ways regression lines can differ
A standard epidural order form.

A standard epidural order form.
A tension pneumothorax should have been suspected based on the clinical scenario and the absence of breath sounds on the left. Emergency needle decompression.

A tension pneumothorax should have been suspected based on the clinical scenario and the absence of breath sounds on the left. Emergency needle decompression.
(Reproduced with permission from Amato AA, Russell JA

(Reproduced with permission from Amato AA, Russell JA
Targeting of lysosomal enzymes via the mannose-6-phosphate receptor: 1) transfer of N-acetylglucosamine-1-phosphate to mannose via phosphotransferase (defective.

Targeting of lysosomal enzymes via the mannose-6-phosphate receptor: 1) transfer of N-acetylglucosamine-1-phosphate to mannose via phosphotransferase (defective.

Similar presentations

Ads by Google