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2003•Journal of Medical GeneticsOpen access

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype

Frideriki Maggouta, S E Roberts, N R Dennis, M W M Veltman, J A Crolla

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Abstract

The proximal region of chromosome 15q is predisposed to a wide range of structural rearrangements. Deletions of this region, spanning approximately 4 Mb, can be paternally or maternally derived and result in Prader-Willi syndrome and Angelman syndrome, respectively.1 Additional copies of the Prader-Willi/Angelman syndrome critical region (PWACR) can occur as interstitial duplications and triplications or as supernumerary marker chromosomes (SMCs).

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The proximal region of chromosome 15q is predisposed to a wide range of structural rearrangements. Deletions of this region, spanning approximately 4 Mb, can be paternally or maternally derived and result in Prader-Willi syndrome and Angelman syndrome, respectively.1 Additional copies of the Prader-Willi/Angelman syndrome critical region (PWACR) can occur as interstitial duplications and triplications or as supernumerary marker chromosomes (SMCs).

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Available abstract

The proximal region of chromosome 15q is predisposed to a wide range of structural rearrangements. Deletions of this region, spanning approximately 4 Mb, can be paternally or maternally derived and result in Prader-Willi syndrome and Angelman syndrome, respectively.1 Additional copies of the Prader-Willi/Angelman syndrome critical region (PWACR) can occur as interstitial duplications and triplications or as supernumerary marker chromosomes (SMCs).

Key concepts: Angelman syndrome, Supernumerary, dup, Genetics, Breakpoint, Biology, Chromosome 15, Marker chromosome

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A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype — Research Paper | ScholarLens