X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.
Galjaard
R J
RJ
Department of Clinical Genetics, Erasmus University/University Hospital, Rotterdam, The Netherlands. r.j.h.galjaard@kgen.fgg.eur.nl
Kostakoglu
N
N
Hoogeboom
J J
JJ
Breedveld
G J
GJ
van der Linde
H C
HC
Hovius
S E
SE
Oostra
B A
BA
Sandkuijl
L A
LA
Akarsu
A N
AN
Heutink
P
P
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*; D014960:X Chromosome / Q000235:genetics*
D004247:DNA