Ending the late diagnosis of Turner syndrome through a novel high-throughput assay

Pediatric Endocrinology Reviews

Volumn 9, Issue SUPPL. 2, 2012, Pages 698-700

  Rivkees, Scott A ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosome; Karyotype; Pyrosequencing; Single nucleotide polymorphism; Turner syndrome

Indexed keywords

GROWTH HORMONE;

CHEEK; CONFERENCE PAPER; DNA DETERMINATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KARYOTYPE; MARKER GENE; PYROSEQUENCING; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME; X CHROMOSOME; Y CHROMOSOME;

ALLELES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, X; COHORT STUDIES; DELAYED DIAGNOSIS; EARLY DIAGNOSIS; FEMALE; GENOTYPE; GENOTYPING TECHNIQUES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KARYOTYPING; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; TURNER SYNDROME;

EID: 84864554974     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (20)

1. Saenger P Turner's syndrome. Curr Ther Endocrinol Metab 1997;6:239-243
2. Gravholt CH Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004;151:657-687 (Pubitemid 40090006)
3. Ranke MB, Saenger P Turner's syndrome. Lancet 2001;358:309-314 (Pubitemid 32738974)
4. Saenger P Value of growth hormone treatment in Turner's syndrome. Endocrine 2000;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 Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr 1998;132:319-324 (Pubitemid 28125187)
6. Hull KL, Harvey S Growth hormone therapy and Quality of Life: possibilities, pitfalls and mechanisms. J Endocrinol 2003;179:311-333 (Pubitemid 38072084)
7. Grate 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
8. 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)
9. Frias JL, Davenport ML Health supervision for children with Turner syndrome. Pediatrics 2003;111:692-702 (Pubitemid 36330739)
10. Parker KL, Wyatt DT, Blethen SL, Baptista J, Price L Screening girls with Turner syndrome: the National Cooperative Growth Study experience. J Pediatr 2003;143:133-135 (Pubitemid 36928583)
11. Massa G, Verlinde F, De Schepper J, Thomas M, Bourguignon JP, Craen M, de Zegher F, Francois I, Du Caju M, Maes M, Heinrichs C Trends in age at diagnosis of Turner syndrome. Arch Dis Child 2005;90:267-268 (Pubitemid 40342389)
12. Savendahl L, Davenport ML Delayed diagnoses of Turner's syndrome: proposed guidelines for change. J Pediatr 2000;137:455-459
13. Bertelloni S, Baroncelli Gl, 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, Mello MB, Monte O Molecular detection of XO - Turner syndrome. Genet Mol Res 2002;1:266-270
15. Fernandez-Martinez FJ, Galindo A, Moreno-Izquierdo A, Gomez-Rodriguez MJ, Moreno-Garcia M, Graneras A, Barreiro E Application of QF-PCR for the prenatal assessment of discordant monozygotic twins for fetal sex. Prenat Diagn 2007;27:648-652 (Pubitemid 47121595)
16. Rocha MN, Melo MR, Longui CA, de Oliveira DV, Figueiredo CC, Pacchi PR A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome. Genet Mol Res 2005;4:749-754
17. Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 2005;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 Laboratory guideline for Turner syndrome. Genet Med 2010;12:52-55
20. Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR A highly sensitive, high-throughput assay for the detection of Turner syndrome. J Clin Endocrinol Metab 2011;96:699-705