| Description |
1 online resource (524 p.) |
| 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 |
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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 |
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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 |
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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 |
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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 |
| Notes |
Description based upon print version of record |
|
Case 4.1 Multiple congenital anomalies due to family history of consanguinity |
| Form |
Electronic book
|
| ISBN |
9780323996235 |
|
032399623X |
|
