Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: Another mechanism for partial hexasomy

S. M. Mann, N. J. Wang, D. H. Liu, L. Wang, R. A. Schultz, N. Dorrani, M. Sigman, N. C. Schanen

Research output: Contribution to journalArticle

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Abstract

Rearrangements of chromosome 15q, including isodicentric 15 chromosomes and interstitial duplications and triplications, have been previously reported in association with autism spectrum disorders. We have identified two boys with exceptionally large der(15) chromosomes that are tricentric and contain four copies of the proximal long arm, including the Prader Willi/Angelman critical region, and leading to hexasomy of the involved segment. Biallelic inheritance of maternal alleles and methylation analysis indicate that the markers are maternally derived. Clinical assessment of the boys indicated severe cognitive impairment associated with marked delays in gross and fine motor skills. Social and language deficits were present in both, although the severity of the mental retardation precluded diagnosis of autism (both were considered to have pervasive developmental disorder-not otherwise specified). Neurologic manifestations included infantile spasms evolving into intractable early-onset myoclonic seizures, psychomotor regression, and profound diffuse hypotonia. These patients represent the most severe end of the spectrum of phenotypes associated with segmental aneuploidy for chromosome 15q11-q13.

Original languageEnglish (US)
Pages (from-to)104-111
Number of pages8
JournalHuman Genetics
Volume115
Issue number2
StatePublished - Jul 2004
Externally publishedYes

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Chromosomes, Human, Pair 15
Chromosomes
Chromosome Duplication
Infantile Spasms
Muscle Hypotonia
Motor Skills
Aneuploidy
Autistic Disorder
Neurologic Manifestations
Intellectual Disability
Methylation
Seizures
Language
Alleles
Phenotype
Drug Resistant Epilepsy
Autism Spectrum Disorder
Cognitive Dysfunction
Maternal Inheritance

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Mann, S. M., Wang, N. J., Liu, D. H., Wang, L., Schultz, R. A., Dorrani, N., ... Schanen, N. C. (2004). Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: Another mechanism for partial hexasomy. Human Genetics, 115(2), 104-111.

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy : Another mechanism for partial hexasomy. / Mann, S. M.; Wang, N. J.; Liu, D. H.; Wang, L.; Schultz, R. A.; Dorrani, N.; Sigman, M.; Schanen, N. C.

In: Human Genetics, Vol. 115, No. 2, 07.2004, p. 104-111.

Research output: Contribution to journalArticle

Mann, SM, Wang, NJ, Liu, DH, Wang, L, Schultz, RA, Dorrani, N, Sigman, M & Schanen, NC 2004, 'Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: Another mechanism for partial hexasomy', Human Genetics, vol. 115, no. 2, pp. 104-111.
Mann, S. M. ; Wang, N. J. ; Liu, D. H. ; Wang, L. ; Schultz, R. A. ; Dorrani, N. ; Sigman, M. ; Schanen, N. C. / Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy : Another mechanism for partial hexasomy. In: Human Genetics. 2004 ; Vol. 115, No. 2. pp. 104-111.
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