A new case of dup(1)(q21.2q12) in an individual with mild mental retardation.
Proximal duplications of the long arm of chromosome 1 are rare and the few patients that have been described in literature have multiple congenital abnormalities and/or mental retardation. The present paper describes the clinical and cytogenetic findings of an adult patient with only mild mental retardation and some minor malformations. The patient carries an inverted duplication of 1q12q21.2.
Faas
B H W
BH
Department of Human Genetics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. b.faas@antrg.umcn.nl
Mieloo
H
H
Van Es-Van Gaal
J W M
JW
Van Ravenswaaij
C
C
D000328:Adult; D002878:Chromosomes, Human, Pair 1; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male