X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

L E Siderius; B C Hamel; H van Bokhoven; F de Jager; B van den Helm; H Kremer; J A Heineman-de Boer; H H Ropers; E C Mariman

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Am J Med Genet. 1999 Jul 30;85(3):216-20.

Authors

L E Siderius¹, B C Hamel, H van Bokhoven, F de Jager, B van den Helm, H Kremer, J A Heineman-de Boer, H H Ropers, E C Mariman

Affiliation

¹ Clinical Genetics Center Utrecht, Utrecht, The Netherlands.

PMID: 10398231

Abstract

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at straight theta=0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval of 25 cM.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Mapping
Cleft Lip / complications*
Cleft Palate / complications*
DNA / genetics
Family Health
Female
Genetic Linkage
Humans
Intellectual Disability / complications
Intellectual Disability / genetics*
Lod Score
Male
Microsatellite Repeats
Pedigree
X Chromosome / genetics*

Substances

DNA