A highly sensitive, high-throughput assay for the detection of Turner syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 3, 2011, Pages 699-705

  Rivkees, Scott A ^a   Hager, Karl ^b   Hosono, Seiyu ^b   Wise, Anastasia ^a   Li, Peining ^a   Rinder, Henry M ^a   Gruen, Jeffrey R ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JS Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; FEMALE; GENOTYPE; HETEROZYGOSITY; HIGH THROUGHPUT SCREENING; HOMOZYGOSITY; HUMAN; HUMAN CELL; KARYOTYPE; LARGE SCALE PRODUCTION; MAJOR CLINICAL STUDY; MALE; ORAL BIOPSY; PRIORITY JOURNAL; PYROSEQUENCING; QUANTITATIVE ANALYSIS; REPRODUCIBILITY; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME; VALIDITY; X CHROMOSOME; X CHROMOSOME ABERRATION; Y CHROMOSOME;

ALLELES; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; COHORT STUDIES; DNA; FEMALE; GENOTYPE; HIGH-THROUGHPUT SCREENING ASSAYS; HOMOZYGOTE; HUMANS; KARYOTYPING; MALE; MOUTH MUCOSA; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; TURNER SYNDROME;

EID: 79952292672     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1554     Document Type: Article

References (25)

1. Saenger P 1997 Turner's syndrome. Curr Ther Endocrinol Metab 6:239-243
2. Gravholt CH 2004 Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 151:657-687 (Pubitemid 40090006)
3. Ranke MB, Saenger P 2001 Turner's syndrome. Lancet 358:309-314 (Pubitemid 32738974)
4. Saenger P 2000 Value of growth hormone treatment in Turner's syndrome. Endocrine 12:183-187 (Pubitemid 30408738)
5. Rosenfeld RG, Attie KM, Frane J, Brasel JA, Burstein S, Cara JF, Chernausek S, Gotlin RW, Kuntze J, Lippe BM, Mahoney CP, Moore WV, Saenger P, Johanson AJ 1998 Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr 132:319-324 (Pubitemid 28125187)
6. Hull KL, Harvey S 2003 Growth hormone therapy and quality of life: possibilities, pitfalls and mechanisms. J Endocrinol 179:311-333 (Pubitemid 38072084)
7. Frías JL, Davenport ML 2003 Health supervision for children with Turner syndrome. Pediatrics 111:692-702 (Pubitemid 36330739)
8. Grote FK, Oostdijk W, De Muinck Keizer-Schrama SM, van Dommelen P, van Buuren S, Dekker FW, Ketel AG, Moll HA, Wit JM 2008 The diagnostic work up of growth failure in secondary health care; an evaluation of consensus guidelines. BMC Pediatr 8:21
9. Bondy CA 2007 Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 92:10-25 (Pubitemid 46067503)
10. Parker KL, Wyatt DT, Blethen SL, Baptista J, Price L 2003 Screening girls with Turner syndrome: the National Cooperative Growth Study experience. J Pediatr 143:133-135 (Pubitemid 36928583)
11. Massa G, Verlinde F, De Schepper J, Thomas M, Bourguignon JP, Craen M, de Zegher F, François I, Du Caju M, Maes M, Heinrichs C 2005 Trends in age at diagnosis of Turner syndrome. Arch Dis Child 90:267-268 (Pubitemid 40342389)
12. Sävendahl L, Davenport ML 2000 Delayed diagnoses of Turner's syndrome: proposed guidelines for change. J Pediatr 137:455-459
13. Bertelloni S, Baroncelli GI, Fruzzetti F, Spinelli C, Simi P, Saggese G 2003 Growth and puberty in Turner's syndrome. J Pediatr Endocrinol Metab 16(Suppl 2):307-315
14. Longui CA, Rocha MN, Martinho LC, Gomes GG, de Miranda RE, Lima TA, Melo MB, Monte O 2002 Molecular detection of XO: Turner syndrome. Genet Mol Res 1:266-270
15. Fernández-Martínez FJ, Galindo A, Moreno-Izquierdo A, Gómez-Rodríguez MJ, Moreno-García M, Grañeras A, Barreiro E 2007 Application of QF-PCR for the prenatal assessment of discordant monozygotic twins for fetal sex. Prenat Diagn 27:648-652 (Pubitemid 47121595)
16. Rocha MN, Melo MR, Longui CA, de Oliveira DV, Figueiredo CC, Pacchi PR 2005 A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome. Genet Mol Res 4:749-754
17. Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K 2005 Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 53:285-288 (Pubitemid 40344058)
18. Pena SD, Sturzeneker R 2003 Fetal diagnosis of monosomy X (Turner syndrome) with methylation-specific PCR. Prenat Diagn 23:769-770 (Pubitemid 37158475)
19. Wolff DJ, Van Dyke DL, Powell CM 2010 Laboratory guideline for Turner syndrome. Genet Med 12:52-55
20. Ronaghi M 2003 Pyrosequencing for SNP genotyping. Methods Mol Biol 212:189-195
21. Meng H, Hager K, Rivkees SA, Gruen JR 2005 Detection of Turner syndrome using high-throughput quantitative genotyping. J Clin Endocrinol Metab 90:3419-3422 (Pubitemid 41014306)
22. Davenport ML 2006 Evidence for early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome. Growth Horm IGF Res 16(Suppl A):S91-S97
23. Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, Fechner PY, Gunther DF, Liu C, Geffner ME, Thrailkill K, Huseman C, Zagar AJ, Quigley CA 2007 Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 92:3406-3416 (Pubitemid 47435312)
24. Davenport ML, Punyasavatsut N, Stewart PW, Gunther DF, Sävendahl L, Sybert VP 2002 Growth failure in early life: an important manifestation of Turner syndrome. Horm Res 57:157-164 (Pubitemid 34621646)
25. Onay H, Ugurlu T, Aykut A, Pehlivan S, Inal M, Tinar S, Ozkinay C, Ozkinay F 2008 Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction. Gynecol Obstet Invest 66:104-110