X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.
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.
Clinical Genetics Center Utrecht, Utrecht, The Netherlands.
L E
LE
Siderius
B C
BC
Hamel
H
H
van Bokhoven
F
F
de Jager
B
B
van den Helm
H
H
Kremer
J A
JA
Heineman-de Boer
H H
HH
Ropers
E C
EC
Mariman
D002874:Chromosome Mapping; D002971:Cleft Lip / Q000150:complications*; D002972:Cleft Palate / Q000150:complications*; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D014960:X Chromosome / Q000235:genetics*
D004247:DNA