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Chromosome r(10)(p15.3q26.12) in a newborn child: case report.
Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Laboratoriemedicinskt centrum, Klinisk patologi och klinisk genetik.
Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Barn- och kvinnocentrum, Barn- och ungdomskliniken i Linköping. (Landstinget i Östergötland)
Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Laboratoriemedicinskt centrum, Klinisk patologi och klinisk genetik.
2009 (engelsk)Inngår i: Molecular Cytogenetics, ISSN 1755-8166, Vol. 2, s. 25-Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

ABSTRACT: BACKGROUND: Ring chromosome 10 is a rare cytogenetic finding. Of the less than 10 reported cases we have found in the literature, none was characterized using high-resolution microarray analysis. Ring chromosomes are frequently unstable due to sister chromatid exchanges and mitotic failures. When mosaicism is present, the interpretation of genotype-phenotype correlations becomes extremely difficult. RESULTS: We report on a newborn girl with growth retardation, microcephaly, congenital heart defects, dysmorphic features and psychomotor retardation. Karyotyping revealed a non-mosaic apparently stable ring chromosome 10 replacing one of the normal homologues in all analyzed metaphases. High-resolution oligonucleotide microarray analysis showed a de novo approximately 12.5 Mb terminal deletion 10q26.12 -> qter and a corresponding 285 kb terminal deletion of 10pter -> p15.3. CONCLUSION: This case demonstrates that an increased nuchal translucency thickness detected by early ultrasonography should preferably lead to not only QF-PCR for the diagnosis of Down syndrome but also karyotyping. In the future, microarray analysis, which needs further evaluation, might become the method of choice. The clinical phenotype of our patient was in agreement with that of patients with a terminal 10q deletion. For the purpose of genotype-phenotype analysis, there seems to be no need for a "ring syndrome" concept.

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BioMed Central, 2009. Vol. 2, s. 25-
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URN: urn:nbn:se:liu:diva-53074DOI: 10.1186/1755-8166-2-25ISI: 000208460900024PubMedID: 19968867OAI: oai:DiVA.org:liu-53074DiVA, id: diva2:286668
Merknad

Original Publication: Cecilia Gunnarsson, Barbara Graffmann, Jo and Jonasson, Chromosome r(10)(p15.3q26.12) in a newborn child: case report., 2009, Molecular Cytogenetics, (2), 25. http://dx.doi.org/10.1186/1755-8166-2-25 Licensee: BioMed Central http://www.biomedcentral.com/

Tilgjengelig fra: 2010-01-15 Laget: 2010-01-15 Sist oppdatert: 2017-01-19

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