Research Article

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus

  1. Paweł Stankiewicz1,*,
  2. Hannelore Thiele1,
  3. Christiane Baldermann1,
  4. Antje Krüger1,
  5. Ioannis Giannakudis1,
  6. Sylvia Dörr1,
  7. Nadeshda Werner2,
  8. Jürgen Kunz3,
  9. Gudrun A. Rappold4,
  10. Ingo Hansmann1

Article first published online: 20 JUL 2001

DOI: 10.1002/ajmg.1512

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 103, Issue 1, pages 56–62, 15 September 2001

Additional Information

How to Cite

Stankiewicz, P., Thiele, H., Baldermann, C., Krüger, A., Giannakudis, I., Dörr, S., Werner, N., Kunz, J., Rappold, G. A. and Hansmann, I. (2001), Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus. Am. J. Med. Genet., 103: 56–62. doi: 10.1002/ajmg.1512

Author Information

  1. 1

    Institute of Human Genetics and Medical Biology, University Halle-Wittenberg, Halle/S, Germany

  2. 2

    Cytogenetic Laboratory, Halle/S, Germany

  3. 3

    Center for Human Genetics, University Marburg, Marburg, Germany

  4. 4

    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

*Department of Molecular and Human Genetics, Room 604B, Baylor College of Medicine, One Baylor Plaza, Texas Medical Center, Houston, TX 77030-3498.

Publication History

  1. Issue published online: 20 AUG 2001
  2. Article first published online: 20 JUL 2001
  3. Manuscript Accepted: 19 MAR 2001
  4. Manuscript Received: 30 OCT 2000

Funded by

  • Deutsche Forschungsgemeinschaft (DFG)
  • Deutscher Akademischer Austauschdienst (DAAD)

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (249K)

Keywords:

  • 7p trisomy syndrome;
  • phenotype-genotype correlation;
  • FISH;
  • TWIST gene

Abstract

We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3–p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within ∼20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect. © 2001 Wiley-Liss, Inc.

View Full Article (HTML) Get PDF (249K)