VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2).
This paper describes a patient with a de novo inverted duplication of chromosome 8(q13-q21.2). He was born with a ventricular septum defect, glandular hypospadias and protruding ears. At the age of 5 1/2 years he had normal psychomotor development. Review of the literature on partial duplications of 8q reveals that the associated phenotype may be mild. Normal psychomotor development, as in our patient, however appears to be uncommon.
Giltay
J C
JC
Clinical Genetics Center Utrecht, The Netherlands. Giltay@POBOX.RUU.NL
Bokma
J A
JA
de France
H
H
Beemer
F A
FA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male