Abstract
Proximal 10q duplication is a well- defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21→q11.22, which was characterized by the array- comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions.
| Original language | English |
|---|---|
| Pages (from-to) | 953-957 |
| Number of pages | 5 |
| Journal | Experimental and Therapeutic Medicine |
| Volume | 7 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2014 |
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Keywords
- 10q duplication syndrome
- 10q11.21→q11.22
- Array-comparative genomic hybridization
- Developmental delay
ASJC Scopus subject areas
- Medicine(all)
- Cancer Research
- Immunology and Microbiology (miscellaneous)
Cite this
Proximal 10q duplication in a child with severe central hypotonia characterized by array- comparative genomic hybridization : A case report and review of the literature. / Manolakos, Emmanouil; Vetro, Annalisa; Garas, Antonios; Thomaidis, Loretta; Kefalas, Konstantinos; Kitsos, George; Ziegler, Monika; Liehr, Thomas; Zuffardi, Orsetta; Papoulidis, Ioannis.
In: Experimental and Therapeutic Medicine, Vol. 7, No. 4, 04.2014, p. 953-957.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Proximal 10q duplication in a child with severe central hypotonia characterized by array- comparative genomic hybridization
T2 - A case report and review of the literature
AU - Manolakos, Emmanouil
AU - Vetro, Annalisa
AU - Garas, Antonios
AU - Thomaidis, Loretta
AU - Kefalas, Konstantinos
AU - Kitsos, George
AU - Ziegler, Monika
AU - Liehr, Thomas
AU - Zuffardi, Orsetta
AU - Papoulidis, Ioannis
PY - 2014/4
Y1 - 2014/4
N2 - Proximal 10q duplication is a well- defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21→q11.22, which was characterized by the array- comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions.
AB - Proximal 10q duplication is a well- defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21→q11.22, which was characterized by the array- comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions.
KW - 10q duplication syndrome
KW - 10q11.21→q11.22
KW - Array-comparative genomic hybridization
KW - Developmental delay
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U2 - 10.3892/etm.2014.1520
DO - 10.3892/etm.2014.1520
M3 - Article
VL - 7
SP - 953
EP - 957
JO - Experimental and Therapeutic Medicine
JF - Experimental and Therapeutic Medicine
SN - 1792-0981
IS - 4
ER -