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Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.
Am J Med Genet. 1995 Nov 20; 59(3):369-74.AJ

Abstract

We report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay. In older patients the facial traits are less characteristic, spastic paraplegia develops, and severe orthopedic problems are frequent. Psychomotor retardation is always severe-to-profound. Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompanied by a deletion of the most terminal part of 8p.

Authors+Show Affiliations

Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8599364

Citation

de Die-Smulders, C E., et al. "Inversion Duplication of the Short Arm of Chromosome 8: Clinical Data On Seven Patients and Review of the Literature." American Journal of Medical Genetics, vol. 59, no. 3, 1995, pp. 369-74.
de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, et al. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet. 1995;59(3):369-74.
de Die-Smulders, C. E., Engelen, J. J., Schrander-Stumpel, C. T., Govaerts, L. C., de Vries, B., Vles, J. S., Wagemans, A., Schijns-Fleuren, S., Gillessen-Kaesbach, G., & Fryns, J. P. (1995). Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. American Journal of Medical Genetics, 59(3), 369-74.
de Die-Smulders CE, et al. Inversion Duplication of the Short Arm of Chromosome 8: Clinical Data On Seven Patients and Review of the Literature. Am J Med Genet. 1995 Nov 20;59(3):369-74. PubMed PMID: 8599364.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. AU - de Die-Smulders,C E, AU - Engelen,J J, AU - Schrander-Stumpel,C T, AU - Govaerts,L C, AU - de Vries,B, AU - Vles,J S, AU - Wagemans,A, AU - Schijns-Fleuren,S, AU - Gillessen-Kaesbach,G, AU - Fryns,J P, PY - 1995/11/20/pubmed PY - 1995/11/20/medline PY - 1995/11/20/entrez SP - 369 EP - 74 JF - American journal of medical genetics JO - Am J Med Genet VL - 59 IS - 3 N2 - We report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay. In older patients the facial traits are less characteristic, spastic paraplegia develops, and severe orthopedic problems are frequent. Psychomotor retardation is always severe-to-profound. Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompanied by a deletion of the most terminal part of 8p. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8599364/Inversion_duplication_of_the_short_arm_of_chromosome_8:_clinical_data_on_seven_patients_and_review_of_the_literature_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=59&issue=3&spage=369 DB - PRIME DP - Unbound Medicine ER -