A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.
A new case of 11q interstitial duplication is reported in a patient with mild dysmorphic features but normal development. Chromosome analysis revealed a de novo 11q dup(11)(q14.1q21) on G banding and FISH studies. Additional molecular genetic studies revealed a similar but more distal duplication at the level of 11q21q23.1. Previous cases of isolated 11q duplication that overlapped with this case were associated with a wide variety of clinical findings and variable developmental disability. These cases all included additional material not duplicated in this patient. The current case represents the first de novo case of 11q duplication with normal development suggesting that the segment between 11q14.1 and 11q21 contains few genes that are dose sensitive. Review of other cases that have used conventional cytogenetic resolution studies suggests that the band 11q13.5 may contain genes contributing to the developmental disabilities in the cases previously reported with proximal 11q duplication. Differences between conventional cytogenetic techniques and newer molecular genetic studies are expected. These newer techniques will help refine prognosis and counseling for families in the future.
Zarate
Yuri A
YA
Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Kogan
Jillene M
JM
Schorry
Elizabeth K
EK
Smolarek
Teresa A
TA
Hopkin
Robert J
RJ
D000328:Adult; D002657:Child Development; D002675:Child, Preschool; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D014314:Trisomy