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VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13‐q21.2)
Author(s) -
Giltay Jacques C.,
Bokma Jan A.,
France Henny,
Beemer Frits A.
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02586.x
Subject(s) - hypospadias , dup , psychomotor learning , psychomotor retardation , gene duplication , phenotype , medicine , genetics , pediatrics , biology , pathology , gene , psychiatry , cognition , alternative medicine
This paper describes a patient with a de novo inverted duplication of chromosome 8(q13‐q21.2). He was bora 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.