A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31

L. Pattison; Y. J. Crow; V. J. Deeble; A. P. Jackson; H. Jafri; Y. Rashid; E. Roberts; C. G. Woods

doi:10.1086/316910

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31

L. Pattison
, Y. J. Crow
, V. J. Deeble
, A. P. Jackson
, H. Jafri
, Y. Rashid
, E. Roberts
, C. G. Woods

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

Abstract

Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678.

Original language	English
Pages (from-to)	1578-1580
Number of pages	2
Journal	American Journal of Human Genetics
Volume	67
Issue number	6
DOIs	https://doi.org/10.1086/316910
Publication status	Published - 2000

Keywords

Adult
Child
Child, Preschool
Chromosome Mapping
genetics: Chromosomes, Human, Pair 1
Consanguinity
Female
genetics: Genes, Recessive
Genetic Markers
Homozygote
Humans
Infant, Newborn
genetics: Linkage (Genetics)
Lod Score
Male
genetics: Microcephaly
Pakistan
Pedigree
Phenotype
Software

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Cite this

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title = "A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31",

abstract = "Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678.",

keywords = "Adult, Child, Child, Preschool, Chromosome Mapping, genetics: Chromosomes, Human, Pair 1, Consanguinity, Female, genetics: Genes, Recessive, Genetic Markers, Homozygote, Humans, Infant, Newborn, genetics: Linkage (Genetics), Lod Score, Male, genetics: Microcephaly, Pakistan, Pedigree, Phenotype, Software",

author = "L. Pattison and Crow, \{Y. J.\} and Deeble, \{V. J.\} and Jackson, \{A. P.\} and H. Jafri and Y. Rashid and E. Roberts and Woods, \{C. G.\}",

year = "2000",

doi = "10.1086/316910",

language = "English",

volume = "67",

pages = "1578--1580",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

TY - JOUR

T1 - A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31

AU - Pattison, L.

AU - Crow, Y. J.

AU - Deeble, V. J.

AU - Jackson, A. P.

AU - Jafri, H.

AU - Rashid, Y.

AU - Roberts, E.

AU - Woods, C. G.

PY - 2000

Y1 - 2000

N2 - Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678.

AB - Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678.

KW - Adult

KW - Child

KW - Child, Preschool

KW - Chromosome Mapping

KW - genetics: Chromosomes, Human, Pair 1

KW - Consanguinity

KW - Female

KW - genetics: Genes, Recessive

KW - Genetic Markers

KW - Homozygote

KW - Humans

KW - Infant, Newborn

KW - genetics: Linkage (Genetics)

KW - Lod Score

KW - Male

KW - genetics: Microcephaly

KW - Pakistan

KW - Pedigree

KW - Phenotype

KW - Software

U2 - 10.1086/316910

DO - 10.1086/316910

M3 - Article

SN - 0002-9297

VL - 67

SP - 1578

EP - 1580

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31

Abstract

Keywords

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