Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA

Zöe Powis; Sung Hae L. Kang; M. Lance Cooper; Ankita Patel; Daniel A. Peiffer; Anne Hawkins; Randall Heidenreich; Kevin L. Gunderson; Sau W. Cheung; Robert P. Erickson

doi:10.1002/ajmg.a.31959

Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA

Zöe Powis
, Sung Hae L. Kang
, M. Lance Cooper
, Ankita Patel
, Daniel A. Peiffer
, Anne Hawkins
, Randall Heidenreich
, Kevin L. Gunderson
, Sau W. Cheung
, Robert P. Erickson

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2→p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age.

Original language	English
Pages (from-to)	2910-2915
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	143
Issue number	24
DOIs	https://doi.org/10.1002/ajmg.a.31959
State	Published - 15 Dec 2007
Externally published	Yes

Keywords

Chromosomal microarray
Chromosomal mosaicism
Pallister-Killian syndrome

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10.1002/ajmg.a.31959

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Powis, Z., Kang, S. H. L., Cooper, M. L., Patel, A., Peiffer, D. A., Hawkins, A., Heidenreich, R., Gunderson, K. L., Cheung, S. W., & Erickson, R. P. (2007). Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. American Journal of Medical Genetics, Part A, 143(24), 2910-2915. https://doi.org/10.1002/ajmg.a.31959

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title = "Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA",

abstract = "A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2→p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age.",

keywords = "Chromosomal microarray, Chromosomal mosaicism, Pallister-Killian syndrome",

author = "Z{\"o}e Powis and Kang, \{Sung Hae L.\} and Cooper, \{M. Lance\} and Ankita Patel and Peiffer, \{Daniel A.\} and Anne Hawkins and Randall Heidenreich and Gunderson, \{Kevin L.\} and Cheung, \{Sau W.\} and Erickson, \{Robert P.\}",

year = "2007",

month = dec,

day = "15",

doi = "10.1002/ajmg.a.31959",

language = "English",

volume = "143",

pages = "2910--2915",

journal = "American Journal of Medical Genetics, Part A",

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}

Powis, Z, Kang, SHL, Cooper, ML, Patel, A, Peiffer, DA, Hawkins, A, Heidenreich, R, Gunderson, KL, Cheung, SW & Erickson, RP 2007, 'Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA', American Journal of Medical Genetics, Part A, vol. 143, no. 24, pp. 2910-2915. https://doi.org/10.1002/ajmg.a.31959

TY - JOUR

T1 - Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA

AU - Powis, Zöe

AU - Kang, Sung Hae L.

AU - Cooper, M. Lance

AU - Patel, Ankita

AU - Peiffer, Daniel A.

AU - Hawkins, Anne

AU - Heidenreich, Randall

AU - Gunderson, Kevin L.

AU - Cheung, Sau W.

AU - Erickson, Robert P.

PY - 2007/12/15

Y1 - 2007/12/15

N2 - A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2→p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age.

AB - A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2→p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age.

KW - Chromosomal microarray

KW - Chromosomal mosaicism

KW - Pallister-Killian syndrome

UR - https://www.scopus.com/pages/publications/37249002814

U2 - 10.1002/ajmg.a.31959

DO - 10.1002/ajmg.a.31959

M3 - Article

C2 - 18000900

AN - SCOPUS:37249002814

SN - 1552-4825

VL - 143

SP - 2910

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 24

ER -

Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA

Abstract

Keywords

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