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.M.
AU - Engelen, J. J.M.
AU - Schrander-Stumpel, C. T.R.M.
AU - Govaerts, L. C.P.
AU - De Vries, B.
AU - Vles, J. S.H.
AU - Wagemans, A.
AU - Schijns-Fleuren, S.
AU - Gillessen- Kaesbach, G.
AU - Fryns, J. P.
PY - 1995
Y1 - 1995
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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0028829783&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320590318
DO - 10.1002/ajmg.1320590318
M3 - Journal articles
C2 - 8599364
AN - SCOPUS:0028829783
SN - 0148-7299
VL - 59
SP - 369
EP - 374
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -
