A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

doi:10.1016/j.psychres.2015.03.022

Psychiatry Research

Volume 228, Issue 1, 30 July 2015, Pages 179-181

https://doi.org/10.1016/j.psychres.2015.03.022 Get rights and content

Section snippets

Authors׳ contributions

L.N. and B.B. carried out the FISH analysis; B.B. carried out the array analysis; B.B. and L.M. carried out the qPCR analysis. N.M.D., C.G. and L.S. carried out the clinical assessment. N.C. and B.B. wrote the first draft of the manuscript. Z.T. supervised the study and critically revised the manuscript. All authors read and approved the final manuscript.

Conflict of interest

The authors declare that they have no conflict of interest.

Acknowledgments

We would like to express our gratitude to the family for their participation and their consent to report our findings. This study was supported by Lundbeck Foundation (R24-A2419 and R100-A9332). BB was supported with a fellowship from the University of Copenhagen.

References (10)

L. Potocki et al.
Characterization of Potocki–Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
American Journal of Human Genetics
(2007)
B. Bertelsen et al.
Chromosomal rearrangments in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature
Neurogenetics
(2013)
S. Blaise et al.
In vivo evidence that TRAF4 is required for central nervous system myelin homeostasis
PLoS One
(2012)
D. Coghill et al.
The genetics of attention-deficit/hyperactivity disorder
Expert Review of Neurotherapeutics
(2009)
J. Karatinos et al.
The nitric oxide pathway: potential implications for treatment of neuropsychiatric disorders
Clinical Neuropharmacology
(1995)

There are more references available in the full text version of this article.

Cited by (3)

Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay
2016, Taiwanese Journal of Obstetrics and Gynecology
Citation Excerpt :
The present case manifested developmental delay and speech delay. Cornelius et al [10] reported a 22-year-old male with the phenotypic findings of Gilles de la Tourette syndrome, attention deficit hyperactivity disorder (ADHD), intellectual disability and seizures, and the sSMC(17) in 82% of the investigated cells. aCGH revealed 17p11.2q11.2 (21,200,000–27,500,000) ×2–3dn.
We present molecular cytogenetic characterization of mosaic small supernumerary marker chromosome (sSMC) derived from chromosome 17.
A 43-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[12]/46,XY[15]. Parental karyotypes were normal. Array comparative genomic hybridization (aCGH) and metaphase fluorescence in situ hybridization (FISH) were applied on cultured amniocytes. Quantitative fluorescent polymerase chain reaction (QF-PCR) was applied on the DNAs extracted from cultured amniocytes and parental bloods. The parents elected to continue the pregnancy. Conventional cytogenetic analysis on peripheral blood of the neonate was performed at age 2 months and 11 months. aCGH was performed on the peripheral blood at age 11 months.
aCGH on cultured amniocytes revealed a result of arr 17q11.1q11.2 (25,372,965–27,725,134)×3.2 (Log2 ratio = 0.73) compassing NOS2, POLDIP2, NEK8, and TRAF4. Metaphase FISH analysis revealed a result of +mar .ish der(17)(D17Z1+, wcp17+)[4/5]. QF-PCR assays excluded uniparental disomy 17. The marker chromosome was the sSMC(17) of der(17)(:p11.1→q11.2:). A 3004 g male baby was delivered at 38 weeks of gestation. Ventricular septal defect, neonatal developmental delay and speech delay with language problems were noted at neonatal follow-ups. The peripheral blood at age 2 months had a karyotype of 47,XY,+mar[11]/46,XY[29]. The peripheral blood analysis at age 11 months revealed a karyotype of 47,XY,+mar[27]/46,XY[13] and the aCGH result of arr 17q11.1q11.2 (25,616,440–27,822,571)×2.5 (Log2 ratio = 0.34).
aCGH is useful in the precise measurement of the involved size of the euchromatic material and the associated genes in prenatally detected sSMC.
Characterization of a de novo SSMC 17 detected in a girl with developmental delay and dysmorphic features
2017, Molecular Cytogenetics
The Genetics of Gilles de la Tourette Syndrome: a Common Aetiological Basis with Comorbid Disorders?
2016, Current Behavioral Neuroscience Reports

¹: Shared first author.

View full text

Letter to the EditorA mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

Section snippets

Authors׳ contributions

Conflict of interest

Acknowledgments

American Journal of Human Genetics

Chromosomal rearrangments in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature

Neurogenetics

In vivo evidence that TRAF4 is required for central nervous system myelin homeostasis

PLoS One

The genetics of attention-deficit/hyperactivity disorder

Expert Review of Neurotherapeutics

The nitric oxide pathway: potential implications for treatment of neuropsychiatric disorders

Clinical Neuropharmacology

Letter to the Editor
A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature