Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

B C Hamel; A P Smits; B van den Helm; D F Smeets; N V Knoers; T van Roosmalen; G H Thoonen; C F Assman-Hulsmans; H H Ropers; E C Mariman; H Kremer

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

B C Hamel
, A P Smits
, B van den Helm
, D F Smeets
, N V Knoers
, T van Roosmalen
, G H Thoonen
, C F Assman-Hulsmans
, H H Ropers
, E C Mariman
, H Kremer

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

30 Citations (Scopus)

Abstract

Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.

Original language	English
Pages (from-to)	290-304
Number of pages	15
Journal	American Journal of Medical Genetics
Volume	85
Issue number	3
Publication status	Published - 30-Jul-1999
Externally published	Yes

Keywords

Adult
Aged
Chromosome Mapping
DNA/genetics
Family Health
Fatal Outcome
Female
Follow-Up Studies
Genetic Linkage
Humans
Intellectual Disability/genetics
Lod Score
Male
Microsatellite Repeats
Middle Aged
Pedigree
Psychiatric Status Rating Scales
Psychometrics
X Chromosome/genetics

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Hamel, B. C., Smits, A. P., van den Helm, B., Smeets, D. F., Knoers, N. V., van Roosmalen, T., Thoonen, G. H., Assman-Hulsmans, C. F., Ropers, H. H., Mariman, E. C., & Kremer, H. (1999). Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. American Journal of Medical Genetics, 85(3), 290-304.

@article{fc305ec981414c5a825b369c72528c59,

title = "Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis",

abstract = "Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.",

keywords = "Adult, Aged, Chromosome Mapping, DNA/genetics, Family Health, Fatal Outcome, Female, Follow-Up Studies, Genetic Linkage, Humans, Intellectual Disability/genetics, Lod Score, Male, Microsatellite Repeats, Middle Aged, Pedigree, Psychiatric Status Rating Scales, Psychometrics, X Chromosome/genetics",

author = "Hamel, \{B C\} and Smits, \{A P\} and \{van den Helm\}, B and Smeets, \{D F\} and Knoers, \{N V\} and \{van Roosmalen\}, T and Thoonen, \{G H\} and Assman-Hulsmans, \{C F\} and Ropers, \{H H\} and Mariman, \{E C\} and H Kremer",

year = "1999",

month = jul,

day = "30",

language = "English",

volume = "85",

pages = "290--304",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "WILEY-LISS",

number = "3",

}

Hamel, BC, Smits, AP, van den Helm, B, Smeets, DF, Knoers, NV, van Roosmalen, T, Thoonen, GH, Assman-Hulsmans, CF, Ropers, HH, Mariman, EC & Kremer, H 1999, 'Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis', American Journal of Medical Genetics, vol. 85, no. 3, pp. 290-304.

TY - JOUR

T1 - Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation

T2 - clinical and psychometric data and results of linkage analysis

AU - Hamel, B C

AU - Smits, A P

AU - van den Helm, B

AU - Smeets, D F

AU - Knoers, N V

AU - van Roosmalen, T

AU - Thoonen, G H

AU - Assman-Hulsmans, C F

AU - Ropers, H H

AU - Mariman, E C

AU - Kremer, H

PY - 1999/7/30

Y1 - 1999/7/30

N2 - Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.

AB - Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.

KW - Adult

KW - Aged

KW - Chromosome Mapping

KW - DNA/genetics

KW - Family Health

KW - Fatal Outcome

KW - Female

KW - Follow-Up Studies

KW - Genetic Linkage

KW - Humans

KW - Intellectual Disability/genetics

KW - Lod Score

KW - Male

KW - Microsatellite Repeats

KW - Middle Aged

KW - Pedigree

KW - Psychiatric Status Rating Scales

KW - Psychometrics

KW - X Chromosome/genetics

M3 - Article

C2 - 10398246

SN - 0148-7299

VL - 85

SP - 290

EP - 304

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

Abstract

Keywords

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