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An interstitial deletion of chromosome 7 at band q21: A case report and review

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Abstract
We report on a girl with moderate developmental delay and mild dysmorphic features. Cytogenetic investigations revealed a de novo interstitial deletion at the proximal dark band on the long arm of chromosome 7(7q21.1-q21.3) in all analyzed G-banded metaphases of lymphocytes and fibroblasts. Fluorescence in situ hybridization (FISH) and molecular studies defined the breakpoints at 7q21.11 and 7q21.3 on the paternal chromosome 7, with the proximal deletion breakpoint between the elastin gene (localized at 7q11.23) and D7S2517, and the distal breakpoint between D7S652 and the COL1A2 gene (localized at 7q21.3-q22.1). Deletions of interstitial segments at the proximal long arm of chromosome 7 at q21 are relatively rare. The karyotype-phenotype correlation of these patients is reviewed and discussed. The clinical findings of patients with a deletion at 7q21 significantly overlap with those of patients with maternal uniparental disomy of chromosome 7 (matUPD(7)) and Silver-Russell syndrome (SRS, OMIM 180860). Therefore, 7q21 might be considered a candidate chromosomal region for matUPD(7) and SRS.
Keywords
SPLIT HAND, GENE, NO EVIDENCE, HAND/SPLIT FOOT MALFORMATION, SILVER-RUSSELL-SYNDROME, MATERNAL UNIPARENTAL DISOMY, LONG-ARM, BETA-GLUCURONIDASE, 7Q DELETION, CYSTIC-FIBROSIS

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MLA
Courtens, Winnie et al. “An Interstitial Deletion of Chromosome 7 at Band Q21: A Case Report and Review.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 134A.1 (2005): 12–23. Print.
APA
Courtens, Winnie, Vermeulen, S., Wuyts, W., Messiaen, L., Wauters, J., Nuytinck, L., Peeters, N., et al. (2005). An interstitial deletion of chromosome 7 at band q21: A case report and review. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 134A(1), 12–23.
Chicago author-date
Courtens, Winnie, Stefan Vermeulen, Wim Wuyts, Ludwine Messiaen, Jan Wauters, Lieve Nuytinck, Nils Peeters, Katrien Storm, Franki Speleman, and Markus Nothen. 2005. “An Interstitial Deletion of Chromosome 7 at Band Q21: A Case Report and Review.” American Journal of Medical Genetics Part A 134A (1): 12–23.
Chicago author-date (all authors)
Courtens, Winnie, Stefan Vermeulen, Wim Wuyts, Ludwine Messiaen, Jan Wauters, Lieve Nuytinck, Nils Peeters, Katrien Storm, Franki Speleman, and Markus Nothen. 2005. “An Interstitial Deletion of Chromosome 7 at Band Q21: A Case Report and Review.” American Journal of Medical Genetics Part A 134A (1): 12–23.
Vancouver
1.
Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, et al. An interstitial deletion of chromosome 7 at band q21: A case report and review. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. HOBOKEN: WILEY-LISS; 2005;134A(1):12–23.
IEEE
[1]
W. Courtens et al., “An interstitial deletion of chromosome 7 at band q21: A case report and review,” AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 134A, no. 1, pp. 12–23, 2005.
@article{907064,
  abstract     = {{We report on a girl with moderate developmental delay and mild dysmorphic features. Cytogenetic investigations revealed a de novo interstitial deletion at the proximal dark band on the long arm of chromosome 7(7q21.1-q21.3) in all analyzed G-banded metaphases of lymphocytes and fibroblasts. Fluorescence in situ hybridization (FISH) and molecular studies defined the breakpoints at 7q21.11 and 7q21.3 on the paternal chromosome 7, with the proximal deletion breakpoint between the elastin gene (localized at 7q11.23) and D7S2517, and the distal breakpoint between D7S652 and the COL1A2 gene (localized at 7q21.3-q22.1). Deletions of interstitial segments at the proximal long arm of chromosome 7 at q21 are relatively rare. The karyotype-phenotype correlation of these patients is reviewed and discussed. The clinical findings of patients with a deletion at 7q21 significantly overlap with those of patients with maternal uniparental disomy of chromosome 7 (matUPD(7)) and Silver-Russell syndrome (SRS, OMIM 180860). Therefore, 7q21 might be considered a candidate chromosomal region for matUPD(7) and SRS.}},
  author       = {{Courtens, Winnie and Vermeulen, Stefan and Wuyts, Wim and Messiaen, Ludwine and Wauters, Jan and Nuytinck, Lieve and Peeters, Nils and Storm, Katrien and Speleman, Franki and Nothen, Markus}},
  issn         = {{1552-4825}},
  journal      = {{AMERICAN JOURNAL OF MEDICAL GENETICS PART A}},
  keywords     = {{SPLIT HAND,GENE,NO EVIDENCE,HAND/SPLIT FOOT MALFORMATION,SILVER-RUSSELL-SYNDROME,MATERNAL UNIPARENTAL DISOMY,LONG-ARM,BETA-GLUCURONIDASE,7Q DELETION,CYSTIC-FIBROSIS}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{12--23}},
  publisher    = {{WILEY-LISS}},
  title        = {{An interstitial deletion of chromosome 7 at band q21: A case report and review}},
  url          = {{http://dx.doi.org/10.1002/ajmg.a.30106}},
  volume       = {{134A}},
  year         = {{2005}},
}

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