First report of mosaic trisomy 12 in a liveborn individual

S. R. Patil; E. P. Bosch; J. W. Hanson

doi:10.1002/ajmg.1320140308

First report of mosaic trisomy 12 in a liveborn individual

S. R. Patil, E. P. Bosch, J. W. Hanson

Neurology

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

29 Scopus citations

Abstract

Trisomy 12 mosaicism was found in a 36-year-old woman with minor abnormalities, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a 'complete' trisomy 12 in a liveborn individual.

Original language	English (US)
Pages (from-to)	453-460
Number of pages	8
Journal	American journal of medical genetics
Volume	14
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320140308
State	Published - Jan 1 1983

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1002/ajmg.1320140308

Cite this

@article{bc63a2c485f84893a46fd8c4624bc08d,

title = "First report of mosaic trisomy 12 in a liveborn individual",

abstract = "Trisomy 12 mosaicism was found in a 36-year-old woman with minor abnormalities, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a 'complete' trisomy 12 in a liveborn individual.",

author = "Patil, {S. R.} and Bosch, {E. P.} and Hanson, {J. W.}",

year = "1983",

month = jan,

day = "1",

doi = "10.1002/ajmg.1320140308",

language = "English (US)",

volume = "14",

pages = "453--460",

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

issn = "0148-7299",

publisher = "Wiley-Liss Inc.",

number = "3",

}

TY - JOUR

T1 - First report of mosaic trisomy 12 in a liveborn individual

AU - Patil, S. R.

AU - Bosch, E. P.

AU - Hanson, J. W.

PY - 1983/1/1

Y1 - 1983/1/1

N2 - Trisomy 12 mosaicism was found in a 36-year-old woman with minor abnormalities, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a 'complete' trisomy 12 in a liveborn individual.

AB - Trisomy 12 mosaicism was found in a 36-year-old woman with minor abnormalities, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a 'complete' trisomy 12 in a liveborn individual.

UR - http://www.scopus.com/inward/record.url?scp=0020574234&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020574234&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320140308

DO - 10.1002/ajmg.1320140308

M3 - Article

C2 - 6859097

AN - SCOPUS:0020574234

SN - 0148-7299

VL - 14

SP - 453

EP - 460

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 3

ER -

First report of mosaic trisomy 12 in a liveborn individual

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this