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.
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 -