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  •   University of Thessaly Institutional Repository
  • Επιστημονικές Δημοσιεύσεις Μελών ΠΘ (ΕΔΠΘ)
  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ.
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  •   University of Thessaly Institutional Repository
  • Επιστημονικές Δημοσιεύσεις Μελών ΠΘ (ΕΔΠΘ)
  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ.
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Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

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Author
Sarri, C.; Douzgou, S.; Gyftodimou, Y.; Tümer, Z.; Ravn, K.; Pasparaki, A.; Sarafidou, T.; Kontos, H.; Kokotas, H.; Karadima, G.; Grigoriadou, M.; Pandelia, E.; Theodorou, V.; Moschonas, N. K.; Petersen, M. B.
Date
2011
DOI
10.1002/ajmg.a.34259
Keyword
Array CGH
Behavioral anomalies
Chromosome 10
Deletion
Duplication
Non-acrocentric satellited chromosomes
Phychomotor delay
RNA 28S
acrocentric chromosome
adolescent
article
case report
centromere
chromosome 10q
chromosome arm
chromosome banding pattern
chromosome deletion
chromosome duplication
chromosome rearrangement
chromosome satellite
chromosome translocation
clinical evaluation
clinical feature
comparative genomic hybridization
developmental disorder
female
fluorescence in situ hybridization
follow up
human
intellectual impairment
medical history
microsatellite marker
monosomy
phenotype
polymerase chain reaction
priority journal
quantitative analysis
sequence homology
telomere
trisomy
Body Dysmorphic Disorders
Chromosome Disorders
Chromosomes, Human, Pair 10
Chromosomes, Human, Y
Follow-Up Studies
Humans
In Situ Hybridization, Fluorescence
Infant
Inheritance Patterns
Intellectual Disability
Nucleolus Organizer Region
Prenatal Diagnosis
Translocation, Genetic
Metadata display
Abstract
We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4Mb deletion on the long arm of chromosome 10, approximately 145kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64Mb 10q26.11-q26.2 duplication, a 1.3Mb region with no copy number change, followed by a 5.62Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes. © 2011 Wiley Periodicals, Inc.
URI
http://hdl.handle.net/11615/32891
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  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. [9714]

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