12225nam a2200793 i 4500 almahu_9949983747202882 DE-602 20250416110202.0 m o d | cr#cnu|||||||| 230709s2023 enka ob 001 0 eng d 9780323996235 032399623X (MiAaPQ)EBC7256460 (Au-PeEL)EBL7256460 (CKB)26845498500041 (FR-PaCSA)88965088 (FRCYB88965088)88965088 (OCoLC)1381711348 (EXLCZ)9926845498500041 MiAaPQ eng rda pn MiAaPQ MiAaPQ DE-11;9949983747202882 DE-578;9961144600402883 DE-188;9961144600402883 DE-83;9923225043802884 DE-188;9961144600402883 DE-578;9961144600402883 RB37.5 .L5 2023 616.042 23 DE-11;9949983747202882 DE-578;9961144600402883 DE-188;9961144600402883 DE-83;9923225043802884 DE-188;9961144600402883 DE-578;9961144600402883 almahu_9949983747202882 Li, Xia, 1871-1938, author. Cases in laboratory genetics and genomics (LGG) practice / Xia Li. 1st ed. Langford Lane, Kidlington, England : Academic Press, [2023] ©2023 1 online resource (524 pages) text txt rdacontent computer c rdamedia online resource cr rdacarrier Includes bibliographical references and index. 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. References -- Chapter 10: Thrombosis -- Background -- Case 10.1 Deep vein thrombosis -- Clinical indication -- Test ordered -- Laboratory test performed -- Test results -- Results with interpretations -- Future testing and recommendations -- Summary of key learning points -- References -- Chapter 11: Pharmacogenomics -- Background -- Case 11.1 Overdose acetaminophen (APAP) -- Clinical indication -- Test ordered -- Laboratory test performed -- Test results -- Results with interpretations -- Future testing and recommendation -- Summary of key learning points -- References -- Part II: Hematologic malignancies -- Chapter 12: Chronic myeloid leukemia -- Background -- Case 12.1 Chronic myeloid Leukemia (CML) with t(1 -- 9 -- 22 -- 15)(p32 -- q34 -- q11.2 -- q25) -- Clinical indication -- Test ordered -- Laboratory test performed -- Test results -- Results with interpretations -- Future testing and recommendations -- Case 12.2 Chronic myeloid leukemia (CML) with t(9 -- 22 -- 17)(q34 -- q11.2 -- q24) -- Clinical indication -- Test ordered -- Laboratory test performed -- Test results -- Results with interpretations -- Future testing and recommendations -- Case 12.3 Chronic myeloid leukemia (CML) with t(9 -- 22)(q34 -- q11.2)inv(22) -- Clinical indication -- Test ordered -- Laboratory test performed -- Test results -- Results with interpretations -- Future testing and recommendations -- Case 12.4 Chronic myeloid leukemia and acute lymphoblastic leukemia with t(9 -- 22)(q34 -- q11.2) -- Clinical indication -- Test ordered -- Laboratory test performed -- Test results -- Results with interpretations -- Future testing and recommendations -- Summary of key learning points -- References -- Chapter 13: Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions -- Background -- Case 13.1 Myeloid/lymphoid neoplasm (MLN) with FGFR1 rearrangement. Clinical indication. 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. Description based on print version record. Description based on publisher supplied metadata and other sources. Diagnosis, Laboratory Case studies. Genetic disorders Diagnosis Case studies. Genetic Testing. Genetic Diseases, Inborn diagnosis. Print version: Li, Xia Cases in Laboratory Genetics and Genomics (LGG) Practice San Diego : Elsevier Science & Technology,c2023 ISBN 9780323996228 BOOK cr 9949983747202882 DE-11 KOBV c 9961144600402883 DE-578 KOBV c 9961144600402883 DE-188 KOBV c 9923225043802884 DE-83 KOBV c 9961144600402883 DE-188 KOBV c 9961144600402883 DE-578 KOBV c false