Balanced Reciprocal Translocations Detected at Amniocentesis

Chen, Chih‐Ping; Wu, Pei Chen; Chen, Lin; Su, Yi Ning; Chern, Schu‐Rern; Tsai, Fuu Jen; Lee, Chen Chi; Town, Dai Dyi; Chen, Wen Lin; Chen, Li Feng; Lee, Meng Shan; Pan, Chen-Wen; Wang, Wayseen

doi:10.1016/s1028-4559(10)60098-8

Cited by 16 publications

(17 citation statements)

References 31 publications

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“…All children were delivered at term with normal birth parameters, a finding that is consistent with the normal birth measurement data previously described . The 6% rate of congenital anomalies detected at birth also appears to be consistent with the rate reported for de novo ABCRs in the literature (6–7%) . The 2/64 (3%) stillbirth rate appears similar to the 4/291 (1.4%) rate reported by Warburton (1991); however, only two neonatal deaths were reported in Warburton's study, and none reported in other studies .…”

Section: Discussionsupporting

confidence: 89%

“…This risk of a phenotypic abnormality means that prenatal counselling for couples whose foetus has been identified as having a de novo ABCR is difficult; although there is a risk that the child could have an adverse outcome, information regarding the likelihood of an abnormal phenotype and the type of abnormalities seen in association with a de novo ABCR is limited. On the basis of short‐term follow‐up data, the reported risks of congenital abnormalities in prenatally detected de novo ABCRs vary from 6.1 to 12.5% …”

Section: Introductionmentioning

confidence: 99%

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Long‐term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement

et al. 2013

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Section: Discussionsupporting

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Long‐term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement

et al. 2013

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“…Balanced translocations; It has been accepted that familial balanced translocations detected by prenatal diagnosis are not associated with phenotypical abnormalities (9). However, in 6% of the prenatally detected de novo balanced reciprocal translocations have been associated with a risk We detected eight supernumerary marker chromosomes in our cohort with a frequency of 0.079%.…”

Section: Resultsmentioning

confidence: 54%

Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases

Yakut¹,

Çetin²,

Şi̇mşek³

et al. 2014

TJPATH

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Objective: The aim of this study was presentation of the ultrasonographic findings and perinatal autopsy of cases with rare chromosomal abnormalities. Material and Method:A total of 10125 prenatal cases over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, and 421 fetal blood sampling cases were evaluated for prenatal cytogenetic diagnosis. Conventional cytogenetic studies, fluorescence in situ hybridization studies, and Array-CGH analysis techniques were used for genetic analysis.Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). rare structural chromosomal abnormalities including de novo balanced translocations, unbalanced translocations, inversions, duplications, deletions, ring chromosomes, and supernumerary marker chromosomes were detected in 24 cases. Conclusion:The rate of rare chromosomal abnormalities varies from 2.4% (South east Ireland) to 12.9% (northern england) in europe with a total rate of 7.4/10 000 births. In our study, the overall rate of chromosomal abnormality in prenatal cytogenetic diagnosis was 3.7%, similar to South east Ireland. ultrasonographic and perinatal autopsy findings of the cases with rare structural chromosomal abnormalities are important for proper genetic counseling for further similar cases.

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“…The prenatal detection of apparently balanced, de novo chromosome rearrangements by conventional cytogenetic techniques should necessarily be followed up with microarray analysis to evaluate the possibility of an imbalance 5 . Chromosomal microarray is now a recommended fist tier clinical test for the evaluation of individuals with developmental delay or congenital anomalies 1 .…”

Section: Discussionmentioning

confidence: 99%

“…In addition, approximately 40% of patients with a clinical phenotype and an apparently balanced translocation by conventional cytogenetics have been shown, by chromosome microarray, to carry a cryptic imbalance that would be consistent with their clinical phenotype 4 . In prenatal diagnosis, therefore, chromosome microarray diagnosis is recommended for fetuses with a de novo chromosome rearrangement 5 . We report an apparently balanced, de novo translocation detected prenatally by conventional karyotype in a patient with epilepsy and neurodevelopmental dysfunction of unknown etiology.…”

mentioning

confidence: 99%

Chromosome Microarray and Undiagnosed Seizures in a Pediatric Patient

Dawson

Mhanni

Booth

et al. 2014

Can. J. Neurol. Sci.

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Chromosome microarrays have revolutionized conventional cytogenetics due to their greatly increased resolution, resulting in a greater number of chromosome abnormalities detected. Chromosome microarray analysis is the recommended first tier diagnostic test for children with mental handicap, congenital anomalies/dysmorphisms and autism 1 and results in a much higher diagnostic yield (15%-20%) than a conventional G-band karyotype (approximately 3%, excluding Down syndrome and other recognizable chromosomal syndromes) 1. Numerous conventional chromosome disorders, such as the Wolf-Hirschhorn (4p-), Angelman (15q-), Miller-Dieker (17p-), Klinefelter (XXY), and Down (+21) syndromes, have been reported in association with various neurological disorders, including seizures and epilepsy 2. However, many children with a neurological disorder, such as severe epilepsies, have a normal G-band karyotype with no diagnosis, although a genetic etiology is often suspected 3. Chromosome microarray has recently been reported to detect clinically significant chromosome abnormalities in approximately 9% of patients with a broad range of neurologic phenotypes of unknown etiology, including severe epilepsy 3. For example, a variety of seizures types were reported in association with the newly identified 15q13.3 microdeletion syndrome, detectable only by microarray 2. A conventional G-band karyotype will not reliably detect deletions or duplications smaller than approximately 5 Mb (megabases). Chromosome microarray allows for the detection of unbalanced DNA copy number variations or changes, i.e. deletions and duplications, at resolutions much less than 1 Mb, with the lower limits of resolution in the hundreds of Kb (kilobases) at gene rich regions. DNA segments from across all chromosomes are used as substitutes for metaphase chromosomes, analogous to a molecular karyotype 1. In addition, approximately 40% of patients with a clinical phenotype and an apparently balanced translocation by conventional cytogenetics have been shown, by chromosome microarray, to carry a cryptic imbalance that would be consistent with their clinical phenotype 4. In prenatal diagnosis, therefore, chromosome microarray diagnosis is recommended for fetuses with a de novo chromosome rearrangement 5. We report an apparently balanced, de novo translocation detected prenatally by conventional karyotype in a patient with epilepsy and neurodevelopmental dysfunction of unknown etiology. A postnatal chromosome microarray revealed a cryptic microdeletion at one of the translocation breakpoints. The results of a prenatal microarray would have suggested consideration of THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

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Balanced Reciprocal Translocations Detected at Amniocentesis

Cited by 16 publications

References 31 publications

Long‐term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement

Long‐term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement

Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases

Chromosome Microarray and Undiagnosed Seizures in a Pediatric Patient

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