scholarly journals Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

2016 ◽  
Vol 144 (2) ◽  
pp. 206 ◽  
Author(s):  
SolomonF.D. Paul ◽  
Shruthi Mohan ◽  
Teena Koshy ◽  
Perumal Vekatachalam ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Intellectual Disability ◽  
Fluorescence In Situ Hybridization ◽  
Developmental Delay ◽  
Frequency Estimation ◽  
Clinical Correlation ◽  
Indian Children ◽  
Subtelomeric Rearrangements

17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum

2020 ◽  
Author(s):  
Chantal Farra ◽  
Lina Abdouni ◽  
Abeer Hani ◽  
Leyla Dirani ◽  
Layal Hamdar ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Intellectual Disability ◽  
Fluorescence In Situ Hybridization ◽  
Primary Hypothyroidism ◽  
Clinical Spectrum ◽  
Class I ◽  
Facial Features ◽  
Distinctive Features ◽  
Bilateral Cryptorchidism

Abstract17p13.3 microduplication syndrome has been associated with a clinical spectrum of phenotypes, and depending on the genes involved in the microduplication, it is categorized into two classes (Class I and Class II). We herein, describe two patients diagnosed with Class I 17p13.3 microduplication by BACs-on-Beads (BoBs) assay and further confirmed by fluorescence in situ hybridization (FISH). Our patients (Patient 1: 4-year-old male; Patient 2: 2-year-old male) presented with developmental delay, intellectual disability, and dysmorphic facial features. When compared with the literature, our patients manifested distinctive features (Patient 1: primary hypothyroidism; Patient 2: bilateral cryptorchidism) that were not previously described in the duplication 17p13.3 spectrum.

890: Multiple Fluorescence in Situ Hybridization (FISH) Probes Increase Sensitivity for Detection of Bladder Cancer

2006 ◽  
Vol 175 (4S) ◽  
pp. 287-288 ◽  
Author(s):  
Juliann M. Dziubinski ◽  
Michael F. Sarosdy ◽  
Paul R. Kahn ◽  
Mark D. Ziffer ◽  
William R. Love ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization

588: Detection of Chromosome 8 Alterations in Paired Needle Biopsy and Prostatectomy Specimens Using Fluorescence In-Situ Hybridization

2004 ◽  
Vol 171 (4S) ◽  
pp. 156-156
Author(s):  
Chandler D. Dora ◽  
Yasushi Kondo ◽  
Fusheng X. Lan ◽  
Jeffrey M. Slezak ◽  
Erik J. Bergstralh ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Needle Biopsy ◽  
Chromosome 8
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