Cases in laboratory genetics and genomics (LGG) practice /

Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenetics and molecular genetics technologies.

Bibliographic Details
Main Author:	Li, Xia
Corporate Author:	ScienceDirect (Online service)
Format:	eBook
Language:	English
Published:	London : Academic Press, 2023.
Subjects:	Genetic disorders > Diagnosis > Case studies. Diagnosis, Laboratory > Case studies. Genetic screening. Genetic Testing Genetic Diseases, Inborn > diagnosis Maladies génétiques > Diagnostic > Études de cas. Diagnostics biologiques > Études de cas. Dépistage génétique. Diagnosis, Laboratory Genetic disorders > Diagnosis Electronic books. Case studies
Online Access:	Connect to the full text of this electronic book

Table of Contents:

Intro
Cases in Laboratory Genetics and Genomics (LGG) Practice
Copyright
Dedication
Contents
Contributors
Foreword
Preface
Acknowledgments
Part I: Inborn diseases
Chapter 1: Multiple congenital anomalies and developmental delay
Background
Case 1.1 Multiple congenital anomalies caused by an unbalanced translocation
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 1.2 Recombinant chromosome 8 syndrome
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 1.3 Multiple congenital anomalies caused by an unbalanced translocation and a deletion
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 1.4 Diamond-Blackfan anemia
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Summary of key learning points
References
Chapter 2: Molar pregnancy
Background
Case 2.1 Complete mole
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendation
Case 2.2 Partial mole
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Summary of key learning points
References
Chapter 3: Sex chromosomal abnormalities
Background
Case 3.1 Female with 45,X/46,XY mosaicism
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations.
Future testing and recommendations
Case 3.2 Sex reversal
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 3.3 Variant turner syndrome
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 3.4 Indeterminate sex with an abnormal Y chromosome
Clinical indication
Test ordered
Test results
Results with interpretation
Future testing and recommendations
Case 3.5 Klinefelter syndrome (47,XXY)
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 3.6 Klinefelter syndrome variant (48,XXYY syndrome)
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Summary of key learning points
References
Chapter 4: Consanguinity
Background
Case 4.1 Multiple congenital anomalies due to family history of consanguinity
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 4.2 Multiple developmental disorders due to consanguinity and Charcot-Marie-tooth disease type 1A
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Summary of key learning points
References
Chapter 5: Uniparental disomy and imprinting disorders
Background
Case 5.1 Prader-Willi syndrome
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations.
Future testing and recommendation
Case 5.2 Prader-Willi/Angelman syndrome
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 5.3 Angelman syndrome
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 5.4 Gaucher disease
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 5.5 Uniparental disomy 7
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Summary of key learning points
References
Chapter 6: Pallister-Killian syndrome
Background
Case 6.1 Pallister-Killian syndrome
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 6.2 Pallister-Killian syndrome
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendation
Summary of key learning points
References
Chapter 7: Fragile X syndrome
Background
Case 7.1 Fragile X syndrome in a male with a full mutation
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 7.2 Fragile X syndrome in a female with a full mutation
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Summary of key learning points
References
Chapter 8: Overgrowth syndrome.
Background
Case 8.1 Sotos syndrome
Clinical indication
Tests ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Case 8.2 Somatic overgrowth syndrome with PIK3CA mutation
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendations
Summary of key learning points
References
Chapter 9: Contiguous gene syndrome
Background
Case 9.1 Haploinsufficiency of A20 (HA20) with 3.4Mb deletion
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendation
Case 9.2 Haploinsufficiency of A20 (HA20) with 11.7Mb deletion
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendation
Case 9.3 Contiguous gene syndrome with duplication of 22q11.2q12.1
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendation
Case 9.4 Contiguous gene syndrome with duplication of 6q16.1q23.3
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing and recommendation
Case 9.5 DiGeorge/Velo-cardio-facial (VCF) syndrome (22q11.2 deletion syndrome)
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing recommendation
Case 9.6 Contiguous gene syndrome with a deletion of 1q43q44
Clinical indication
Test ordered
Laboratory test performed
Test results
Results with interpretations
Future testing recommendation
Summary of key learning points.