PMID- 12749048
OWN - NLM
STAT- MEDLINE
DCOM- 20040130
LR  - 20211018
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 119A
IP  - 2
DP  - 2003 Jun 1
TI  - Genetic and clinical characterization of patients with an interstitial 
      duplication 15q11-q13, emphasizing behavioral phenotype and response to 
      treatment.
PG  - 111-20
AB  - The clinical significance of an interstitial duplication of (15)(q11-q13) remains 
      unclear and controversial. The reported phenotypes vary widely and appear to be 
      influenced by the parent of origin of the duplication. Aside from cases of 
      dup(15) reported with autism, the behavioral phenotype of individuals with 
      dup(15) has not been described. We present three families, two with 
      intrachromosomal duplication (15)(q11-q13) ascertained because of developmental 
      delay in a relative. Two families show clear evidence of multigenerational 
      maternal inheritance. The individuals discussed in this paper have minor 
      anomalies and developmental delays. In addition, we describe a behavioral 
      phenotype which often includes attention deficit hyperactivity disorder (ADHD) 
      and autistic spectrum disorder. Responses to medications used to manage these 
      behaviors are also described, including a positive response to methylphenidate 
      and a poor response to fluoxetine. The duplication in each presenting individual, 
      and available family members, was investigated utilizing cytogenetic and 
      molecular techniques including high resolution cytogenetics, fluorescence in situ 
      hybridization (FISH), DNA methylation studies, and quantitative fluorescence PCR. 
      High resolution cytogenetic techniques alone missed some cases, demonstrating the 
      need to confirm results with other methods.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Thomas, J A
AU  - Thomas JA
AD  - Department of Pediatrics, University of Colorado Health Sciences Center, Denver, 
      Colorado, USA. thomas.janet@tchden.edu
FAU - Johnson, J
AU  - Johnson J
FAU - Peterson Kraai, T L
AU  - Peterson Kraai TL
FAU - Wilson, R
AU  - Wilson R
FAU - Tartaglia, N
AU  - Tartaglia N
FAU - LeRoux, J
AU  - LeRoux J
FAU - Beischel, L
AU  - Beischel L
FAU - McGavran, L
AU  - McGavran L
FAU - Hagerman, R J
AU  - Hagerman RJ
LA  - eng
GR  - HD36071/HD/NICHD NIH HHS/United States
GR  - T35DK07496-14/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 15
MH  - Developmental Disabilities/*genetics/*physiopathology
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Pedigree
MH  - Stereotypic Movement Disorder/genetics/physiopathology
EDAT- 2003/05/16 05:00
MHDA- 2004/01/31 05:00
CRDT- 2003/05/16 05:00
PHST- 2003/05/16 05:00 [pubmed]
PHST- 2004/01/31 05:00 [medline]
PHST- 2003/05/16 05:00 [entrez]
AID - 10.1002/ajmg.a.10176 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jun 1;119A(2):111-20. doi: 10.1002/ajmg.a.10176.