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|a Li, Xia.
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|a Cases in laboratory genetics and genomics (LGG) practice /
|c Xia Li.
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|a London :
|b Academic Press,
|c 2023.
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|a 1 online resource
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|a 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.
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|a 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.
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|a 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.
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|a 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.
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| 520 |
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|a 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.
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| 650 |
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0 |
|a Genetic disorders
|x Diagnosis
|v Case studies.
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| 650 |
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0 |
|a Diagnosis, Laboratory
|v Case studies.
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| 650 |
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|a Genetic screening.
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| 650 |
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2 |
|a Genetic Testing
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| 650 |
1 |
2 |
|a Genetic Diseases, Inborn
|x diagnosis
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| 650 |
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|a Maladies génétiques
|x Diagnostic
|v Études de cas.
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| 650 |
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6 |
|a Diagnostics biologiques
|v Études de cas.
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| 650 |
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6 |
|a Dépistage génétique.
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| 650 |
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7 |
|a Diagnosis, Laboratory
|2 fast
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| 650 |
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7 |
|a Genetic disorders
|x Diagnosis
|2 fast
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|2 local
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|a Case studies
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|i Print version:
|z 9780323996235
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| 776 |
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|i Print version:
|z 0323996221
|z 9780323996228
|w (OCoLC)1356232508
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| 776 |
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|i Print version:
|a LI, XIA.
|t CASES IN LABORATORY GENETICS AND GENOMICS (LGG) PRACTICE.
|d [S.l.] : ELSEVIER ACADEMIC PRESS, 2023
|z 0323996221
|w (OCoLC)1356232508
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|z Connect to the full text of this electronic book
|t 0
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|a Elsevier ScienceDirect 2026-2027
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| 994 |
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|a Texas A&M University
|b College Station
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