Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

Sanz, Raúl; Anabitarte, M; Querejeta, María Eugenia; Lorda‐Sánchez, Isabel; Ibáñez, María del Mar Soria; Alba, M R Rodríguez de; Ayuso, Carmen; Ramos, Carmen

doi:10.1002/(sici)1097-0223(200001)20:1<63::aid-pd741>3.0.co;2-w

Cited by 10 publications

(3 citation statements)

References 14 publications

(14 reference statements)

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“…In addition, cytogenetic analysis followed by FISH studies made it possible for identification of small de novo structural anomalies and marker chromosomes unidentifiable by G-banding. Furthermore, it could give much better insights to the relation between genotype and phenotype and results using FISH provided a much better understanding for fetal anomalies (19)(20)(21).…”

Section: Discussionmentioning

confidence: 99%

De novo Chromosomal Aberrations in the Fetus; Genetic Counseling and Clinical Outcome

et al. 2003

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The aim of this study was to examine the incidence and clinical outcome of de novo chromosomal aberrations retrospectively and provide useful data for genetic counseling in the prenatal cytogenetic diagnosis. We found 17 cases of de novo chromosomal aberrations in 5501 cases of prenatal cytogenetic analysis and reviewed the karyotype, further study, medical records, fetal ultrasound findings and clinical outcomes. Out of the 17 de novo chromosomal aberrations, 5 had balanced reciprocal translocations and 12 had unbalanced translocations characterized as deletion, addition, or marker. In the case of the five balanced reciprocal translocations, 3 cases without abnormal ultrasound findings were carried to term after comprehensive genetic counseling. Neonates were phenotypically normal and clinical examinations were normal. Two cases with abnormal ultrasound findings were terminated therapeutically. Twelve cases of unbalanced translocations were terminated except one case with a mosaic marker chromosome. High resolution fetal ultrasound and detailed cytogenetic and molecular study will be adjunctive tools for predicting the karyotype/phenotype correlations of fetuses with de novo chromosomal aberrations, although they have limitation to find all phenotypic effects.

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Section: Discussionmentioning

confidence: 99%

De novo Chromosomal Aberrations in the Fetus; Genetic Counseling and Clinical Outcome

et al. 2003

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“…The extra structural abnormal chromosome in the present case was also positive with DA/DAPI staining. Very recently, a small dicentric marker 16, detected in 20% of amnion cells and in 16% of fetal blood cells, was reported to be associated with a normal phenotype, analysed until the age of 9 months (Sanz et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16

et al. 2001

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Marker chromosomes are supernumerary chromosomes of unknown origin and are seldom found in prenatal diagnosis. Application of fluorescent in situ hybridization (FISH) allows the identification of the chromosomal origin of markers. Estimation of the risk of an abnormal phenotype outcome can be enabled by collecting data on phenotypes associated with markers of the same chromosomal origin. So far only very few cases of prenatal diagnosis of de novo supernumerary markers derived from chromosome 16 have been reported. Here the prenatal diagnosis of a de novo supernumerary marker chromosome 16 is described and the relevant literature discussed.

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“…The second case ended in a termination of pregnancy (TOP) with no clinical information [ 10 ]. And finally, the other three cases were ascertained in the amniotic fluid of three pregnant woman being normal the prenatal outcome and/or baby follow-up [ 11 - 13 ].…”

Section: Brief Reportmentioning

confidence: 99%

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

et al. 2008

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Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted to be derived from chromosome 16. In fact, the presence of euchromatin material from the long arm (16q) in the sSMC was demonstrated, and the karyotype can be written as mos 47, XY,+min(16)(:p11.1->q12.1:)[20]/46, XY [10].

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Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

Cited by 10 publications

References 14 publications

De novo Chromosomal Aberrations in the Fetus; Genetic Counseling and Clinical Outcome

De novo Chromosomal Aberrations in the Fetus; Genetic Counseling and Clinical Outcome

Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

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