X-linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization

G. Turner; A. Gedeon; J. Mulley

doi:10.1002/ajmg.1320510456

X-linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization

G. Turner, A. Gedeon, J. Mulley

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17 Citations (Scopus)

Abstract

A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 (θ = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985 (Am J Med Genet 21:697-705).

Original language	English
Pages (from-to)	575-580
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	51
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320510456
Publication status	Published - 11 Jul 1994
Externally published	Yes

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title = "X-linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization",

abstract = "A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 (θ = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985 (Am J Med Genet 21:697-705).",

keywords = "gene localization, recombination, X-linkage",

author = "G. Turner and A. Gedeon and J. Mulley",

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T1 - X-linked mental retardation with heterozygous expression and macrocephaly

T2 - Pericentromeric gene localization

AU - Turner, G.

AU - Gedeon, A.

AU - Mulley, J.

PY - 1994/7/11

Y1 - 1994/7/11

N2 - A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 (θ = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985 (Am J Med Genet 21:697-705).

AB - A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 (θ = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985 (Am J Med Genet 21:697-705).

KW - gene localization

KW - recombination

KW - X-linkage

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EP - 580

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

X-linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization

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