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Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
Am J Med Genet A 2006; 140(7):704-8AJ

Abstract

The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome.

Authors+Show Affiliations

Department of Pathology, West Virginia University School of Medicine, Morgantown, West Virginia 26506-9203, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16502431

Citation

Wenger, Sharon L., et al. "Molecular Characterization of an 11q Interstitial Deletion in a Patient With the Clinical Features of Jacobsen Syndrome." American Journal of Medical Genetics. Part A, vol. 140, no. 7, 2006, pp. 704-8.
Wenger SL, Grossfeld PD, Siu BL, et al. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. Am J Med Genet A. 2006;140(7):704-8.
Wenger, S. L., Grossfeld, P. D., Siu, B. L., Coad, J. E., Keller, F. G., & Hummel, M. (2006). Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. American Journal of Medical Genetics. Part A, 140(7), pp. 704-8.
Wenger SL, et al. Molecular Characterization of an 11q Interstitial Deletion in a Patient With the Clinical Features of Jacobsen Syndrome. Am J Med Genet A. 2006 Apr 1;140(7):704-8. PubMed PMID: 16502431.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. AU - Wenger,Sharon L, AU - Grossfeld,Paul D, AU - Siu,Benjamin L, AU - Coad,James E, AU - Keller,Frank G, AU - Hummel,Marybeth, PY - 2006/2/28/pubmed PY - 2006/5/31/medline PY - 2006/2/28/entrez SP - 704 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 140 IS - 7 N2 - The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/16502431/Molecular_characterization_of_an_11q_interstitial_deletion_in_a_patient_with_the_clinical_features_of_Jacobsen_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.31146 DB - PRIME DP - Unbound Medicine ER -