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Journal of Assisted Reproduction and Genetics

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01-07-2011 | Genetics

Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

Authors: Monica Martinez-Garcia, Eva Ainse, Maria García-Hoyos, Ana Bustamante, Rocio Cardero, Carmen Ramos-Corrales, Maria Jose Trujillo-Tiebas, Marta Rodriguez de Alba, Isabel Lorda

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2011

Excerpt

Multiple risk factors such as exposure to teratogens, advanced parental age, anatomic anomalies of the mother, genetic diseases and chromosomal anomalies are involved in embryo loss. Spontaneous abortions occur in approximately 10–15% of clinically recognised pregnancies. Most women who miscarry are not informed of the cause of their pregnancy loss, thereby causing them anxiety, confusion, low self-esteem and depression [1, 2]. Knowledge of the causes of spontaneous abortion reduces both stress and the feeling of culpability that occur after miscarriage [1]. …

Nikcevic AV, Tunkel SA, Kuczmierczyk AR, Nicolaides KH. Investigation of the cause of miscarriage and its influence on women’s psychological distress. Br J Obstet Gynaecol. 1999;106(8):808–13.PubMedCrossRef

Griebel CP, Halvorsen J, Golemon T, Day AA. Management of spontaneous abortion. Am Fam Physician. 2005;72(7):1243–9.PubMed

Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet. 1980;44:151–78.PubMedCrossRef

Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod. 2006;21(4):958–66.PubMedCrossRef

Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, et al. A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet A. 2004;15:69–73.CrossRef

Patton S, Stenhouse S. Draft best practice guidelines for laboratory internal quality control. 2001. Available on European Molecular Quality Network website (www.emqn.org).

Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn. 1997;17(13):1299–311.PubMedCrossRef

Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation- dependent probe amplification. Nucleic Acids Res. 2002;30:e57.PubMedCrossRef

Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Gene Chromosome Canc. 1997;20(4):399–407.CrossRef

10.

Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, et al. Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res. 2010;36(2):435–40.PubMedCrossRef

Title: Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21
Authors: Monica Martinez-Garcia
Eva Ainse
Maria García-Hoyos
Ana Bustamante
Rocio Cardero
Carmen Ramos-Corrales
Maria Jose Trujillo-Tiebas
Marta Rodriguez de Alba
Isabel Lorda
Publication date: 01-07-2011
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 7/2011
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-011-9569-x

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Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

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ACC 2024 Congress

Springer Medicine

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