Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction

Adinolfí, Matteo; Pertl, Barbara; Sherlock, Jon

doi:10.1002/(sici)1097-0223(199712)17:13<1299::aid-pd297>3.0.co;2-h

Cited by 89 publications

(18 citation statements)

References 30 publications

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“…This attractive hypothesis has, however, never been tested experimentally. In the present study, we have performed quantitative fluorescent polymerase chain reaction (QF-PCR) 20 with a large set of microsatellite markers to investigate the allelic status and to ascertain the parental origin of the trisomic chromosomes in hyperdiploid childhood ALL.…”

Section: Introductionmentioning

confidence: 99%

Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia

Paulsson

Panagopoulos

Knuutila

et al. 2003

Blood

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High hyperdiploidy, common in childhood acute lymphoblastic leukemia (ALL) with a favorable prognosis, is characterized by specific trisomies. Virtually nothing is known about its formation or pathogenetic impact. We evaluated 10 patients with ALL using 38 microsatellite markers mapped to 18 of the 24 human chromosomes to investigate the mechanisms underlying hyperdiploidy and to ascertain the parental origin of the trisomies.

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Section: Introductionmentioning

confidence: 99%

Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia

Paulsson

Panagopoulos

Knuutila

et al. 2003

Blood

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“…Therefore, QF-PCR for prenatal detection of aneuploidy in chromosomes 13, 18, 21, X and Y was performed in an ABI PRISM 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA) and analysed with Gene Mapper v.4.0 software package (Applied Biosystems, Foster City, CA, USA) in order to confirm the foetal origin of the sample, discard the most common aneuploidies and determine the sex of the sample [7].…”

Section: Case Reportmentioning

confidence: 99%

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

Mártinez-García

Ainse

Garcia‐Hoyos

et al. 2011

J Assist Reprod Genet

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“…Two Multiplex QF-PCR assays with STR markers for chromosomes 13, 15, 18, and X were performed for the study of aneuploidies [18].…”

Section: Molecular Studiesmentioning

confidence: 99%

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

Trujillo-Tiebas

Fenollar-Cortés

Lorda‐Sánchez

et al. 2009

J Assist Reprod Genet

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Purpose Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses. Methods 54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD). Results 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases. Conclusions Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.

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Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction

Cited by 89 publications

References 30 publications

Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia

Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia

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

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

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