Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 111-120 |
| Number of pages | 10 |
| Journal | American Journal of Medical Genetics |
| Volume | 119 A |
| Issue number | 2 |
| State | Published - Jun 1 2003 |
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Keywords
- Attention deficit hyperactivity disorder
- Autism
- Chromosomal duplication
- Developmental delay
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. / Thomas, J. A.; Johnson, J.; Peterson Kraai, T. L.; Wilson, R.; Tartaglia, N.; LeRoux, J.; Beischel, L.; McGavran, L.; Hagerman, Randi J.
In: American Journal of Medical Genetics, Vol. 119 A, No. 2, 01.06.2003, p. 111-120.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment
AU - Thomas, J. A.
AU - Johnson, J.
AU - Peterson Kraai, T. L.
AU - Wilson, R.
AU - Tartaglia, N.
AU - LeRoux, J.
AU - Beischel, L.
AU - McGavran, L.
AU - Hagerman, Randi J
PY - 2003/6/1
Y1 - 2003/6/1
N2 - 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.
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.
KW - Attention deficit hyperactivity disorder
KW - Autism
KW - Chromosomal duplication
KW - Developmental delay
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UR - http://www.scopus.com/inward/citedby.url?scp=0041320864&partnerID=8YFLogxK
M3 - Article
VL - 119 A
SP - 111
EP - 120
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 2
ER -