A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans

C Brewer; S Holloway; P Zawalnyski; A Schinzel; D FitzPatrick

doi:10.1086/302410

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans

C Brewer, S Holloway, P Zawalnyski, A Schinzel, D FitzPatrick

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

Abstract / Description of output

The distribution of simple autosomal duplications associated with congenital malformations has been analyzed by means of data contained in the Human Cytogenetics Database. For each of the 47 malformations, the frequency of duplication of a given chromosome band associated with the malformation was compared with the overall frequency of duplication of that band recorded in the database. In total, there were 143 malformation-associated chromosomal regions (MACR); 21 of these contained at least one band with a highly significant (P

Original language	English
Pages (from-to)	1702-8
Number of pages	7
Journal	American Journal of Human Genetics
Volume	64
Issue number	6
DOIs	https://doi.org/10.1086/302410
Publication status	Published - Jun 1999

Keywords / Materials (for Non-textual outputs)

Chromosome Aberrations
Chromosome Mapping
Congenital Abnormalities
Genes, Lethal
Humans

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10.1086/302410

Cite this

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title = "A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans",

abstract = "The distribution of simple autosomal duplications associated with congenital malformations has been analyzed by means of data contained in the Human Cytogenetics Database. For each of the 47 malformations, the frequency of duplication of a given chromosome band associated with the malformation was compared with the overall frequency of duplication of that band recorded in the database. In total, there were 143 malformation-associated chromosomal regions (MACR); 21 of these contained at least one band with a highly significant (P",

keywords = "Chromosome Aberrations, Chromosome Mapping, Congenital Abnormalities, Genes, Lethal, Humans",

author = "C Brewer and S Holloway and P Zawalnyski and A Schinzel and D FitzPatrick",

year = "1999",

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doi = "10.1086/302410",

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T1 - A chromosomal duplication map of malformations

T2 - regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans

AU - Brewer, C

AU - Holloway, S

AU - Zawalnyski, P

AU - Schinzel, A

AU - FitzPatrick, D

PY - 1999/6

Y1 - 1999/6

N2 - The distribution of simple autosomal duplications associated with congenital malformations has been analyzed by means of data contained in the Human Cytogenetics Database. For each of the 47 malformations, the frequency of duplication of a given chromosome band associated with the malformation was compared with the overall frequency of duplication of that band recorded in the database. In total, there were 143 malformation-associated chromosomal regions (MACR); 21 of these contained at least one band with a highly significant (P

AB - The distribution of simple autosomal duplications associated with congenital malformations has been analyzed by means of data contained in the Human Cytogenetics Database. For each of the 47 malformations, the frequency of duplication of a given chromosome band associated with the malformation was compared with the overall frequency of duplication of that band recorded in the database. In total, there were 143 malformation-associated chromosomal regions (MACR); 21 of these contained at least one band with a highly significant (P

KW - Chromosome Aberrations

KW - Chromosome Mapping

KW - Congenital Abnormalities

KW - Genes, Lethal

KW - Humans

U2 - 10.1086/302410

DO - 10.1086/302410

M3 - Article

C2 - 10330358

SN - 0002-9297

VL - 64

SP - 1702

EP - 1708

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans

Abstract / Description of output

Keywords / Materials (for Non-textual outputs)

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