Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15)

Raymond Stallings; David Vaughn; Keara Hall; Caroline Joyce; Fergus Ryan; David Barton; Michael Geraghty

doi:10.1136/jmg.34.6.512

Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15)

Raymond Stallings
, David Vaughn
, Keara Hall
, Caroline Joyce
, Fergus Ryan
, David Barton
, Michael Geraghty

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

Abstract

We report on a 2 1/4 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.

Original language	English
Pages (from-to)	512-514
Number of pages	3
Journal	Journal of Medical Genetics
Volume	34
Issue number	6
DOIs	https://doi.org/10.1136/jmg.34.6.512
Publication status	Published - 1997
Externally published	Yes

Keywords

De novo t(3;15)
Mosaicism
Trisomy 3q

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10.1136/jmg.34.6.512

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title = "Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15)",

abstract = "We report on a 2 1/4 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.",

keywords = "De novo t(3;15), Mosaicism, Trisomy 3q",

author = "Raymond Stallings and David Vaughn and Keara Hall and Caroline Joyce and Fergus Ryan and David Barton and Michael Geraghty",

year = "1997",

doi = "10.1136/jmg.34.6.512",

language = "English",

volume = "34",

pages = "512--514",

journal = "Journal of Medical Genetics",

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TY - JOUR

T1 - Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15)

AU - Stallings, Raymond

AU - Vaughn, David

AU - Hall, Keara

AU - Joyce, Caroline

AU - Ryan, Fergus

AU - Barton, David

AU - Geraghty, Michael

PY - 1997

Y1 - 1997

N2 - We report on a 2 1/4 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.

AB - We report on a 2 1/4 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.

KW - De novo t(3;15)

KW - Mosaicism

KW - Trisomy 3q

UR - https://www.scopus.com/pages/publications/0030920862

U2 - 10.1136/jmg.34.6.512

DO - 10.1136/jmg.34.6.512

M3 - Article

C2 - 9192276

AN - SCOPUS:0030920862

SN - 0022-2593

VL - 34

SP - 512

EP - 514

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 6

ER -

Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15)

Abstract

Keywords

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