Complex chromosome rearrangements. Report of a new case and literature review

G. S. Pai; G. H. Thomas; W. Mahoney; B. R. Migeon

doi:10.1111/j.1399-0004.1980.tb01790.x

Complex chromosome rearrangements. Report of a new case and literature review

G. S. Pai, G. H. Thomas, W. Mahoney, B. R. Migeon

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

107 Scopus citations

Abstract

A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.

Original language	English (US)
Pages (from-to)	436-444
Number of pages	9
Journal	Clinical Genetics
Volume	18
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.1980.tb01790.x
State	Published - 1980
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1980.tb01790.x

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title = "Complex chromosome rearrangements. Report of a new case and literature review",

abstract = "A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.",

author = "Pai, {G. S.} and Thomas, {G. H.} and W. Mahoney and Migeon, {B. R.}",

year = "1980",

doi = "10.1111/j.1399-0004.1980.tb01790.x",

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AU - Thomas, G. H.

AU - Mahoney, W.

AU - Migeon, B. R.

PY - 1980

Y1 - 1980

N2 - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.

AB - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.

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Complex chromosome rearrangements. Report of a new case and literature review

Abstract

ASJC Scopus subject areas

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