Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

2006 ◽  
Vol 147 (6) ◽  
pp. 295-300 ◽  
Author(s):  
Sandra Monfort ◽  
Carmen Orellana ◽  
Silvestre Oltra ◽  
Mónica RosellÓ ◽  
Miriam Guitart ◽  
...  
Keyword(s):  
Subtelomeric Rearrangements

scholarly journals Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

2019 ◽  
Vol 32 (7-8) ◽  
pp. 529
Author(s):  
Ana Rita Soares ◽  
Gabriela Soares ◽  
Manuela Mota-Freitas ◽  
Natália Oliva-Teles ◽  
Ana Maria Fortuna
Keyword(s):  
Intellectual Disability ◽  
Comparative Genomic Hybridization ◽  
Chromosomal Abnormality ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Family Members ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Subtelomeric Rearrangements

Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence.

scholarly journals Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization

PLoS ONE ◽  
2009 ◽  
Vol 4 (6) ◽  
pp. e5855 ◽  
Author(s):  
Jasen L. Wise ◽  
Richard J. Crout ◽  
Daniel W. McNeil ◽  
Robert J. Weyant ◽  
Mary L. Marazita ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
X Chromosome ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome Mosaicism ◽  
Normal Individuals ◽  
Subtelomeric Rearrangements

scholarly journals Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities

2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Chariyawan Charalsawadi ◽  
Jariya Khayman ◽  
Verayuth Praphanphoj ◽  
Pornprot Limprasert
Keyword(s):  
Intellectual Disabilities ◽  
Detection Rate ◽  
Deletion Syndrome ◽  
Review Of Literature ◽  
Multiple Congenital Anomalies ◽  
Dysmorphic Features ◽  
Combining Data ◽  
The One ◽  
Subtelomeric Rearrangements

We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric rearrangements in 82 Thai patients with unexplained intellectual disability (ID) and detected subtelomeric rearrangements in 5 patients. Here, we reported on a patient with der(20)t(X;20)(p22.3;q13.3) and a patient with der(3)t(X;3)(p22.3;p26.3). These rearrangements have never been described elsewhere. We also reported on a patient with der(10)t(7;10)(p22.3;q26.3), of which the same rearrangement had been reported in one literature. Well-recognized syndromes were detected in two separated patients, including 4p deletion syndrome and 1p36 deletion syndrome. All patients with subtelomeric rearrangements had both ID and multiple congenital anomalies (MCA) and/or dysmorphic features (DF), except the one with der(20)t(X;20), who had ID alone. By using FISH, the detection rate of subtelomeric rearrangements in patients with both ID and MCA/DF was 8.5%, compared to 2.9% of patients with only ID. Literature review found 28 studies on the detection of subtelomeric rearrangements by FISH in patients with ID. Combining data from these studies and our study, 15,591 patients were examined and 473 patients with subtelomeric rearrangements were determined. The frequency of subtelomeric rearrangements detected by FISH in patients with ID was 3%. Terminal deletions were found in 47.7%, while unbalanced derivative chromosomes were found in 47.9% of the rearrangements.

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

2010 ◽  
Vol 51 (2) ◽  
pp. 215-217 ◽  
Author(s):  
J. Bogdanowicz ◽  
B. Pawłowska ◽  
A. Ilnicka ◽  
S. Gawlik-Zawiślak ◽  
A. Jóźwiak ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Dysmorphic Features ◽  
Subtelomeric Rearrangements

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

2002 ◽  
Vol 107 (4) ◽  
pp. 275-284 ◽  
Author(s):  
Britt-Marie Anderlid ◽  
Jacqueline Schoumans ◽  
Göran Annerén ◽  
Sigrid Sahlén ◽  
Mårten Kyllerman ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Subtelomeric Rearrangements ◽  
Idiopathic Mental Retardation

A new strategy for the detection of subtelomeric rearrangements

2001 ◽  
Vol 109 (6) ◽  
pp. 576-583 ◽  
Author(s):  
Christine Fauth ◽  
Hongen Zhang ◽  
Stephanie Harabacz ◽  
Jill Brown ◽  
Kaan Saracoglu ◽  
...  
Keyword(s):  
New Strategy ◽  
Subtelomeric Rearrangements

Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations

2006 ◽  
Vol 140A (24) ◽  
pp. 2768-2775 ◽  
Author(s):  
Jennifer Gignac ◽  
Karine Danis ◽  
Frédérique Tihy ◽  
Emmanuelle Lemyre
Keyword(s):  
Prenatal Detection ◽  
Subtelomeric Rearrangements
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