Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.
Aarskog-Scott syndrome was tentatively mapped to Xq13 on the basis of an X:8 translocation by Bawle et al. [Am J Med Genet 17:595-602, 1984]. A review of the cytogenetics and the use of molecular markers in that family have resulted in revision of the breakpoints of the translocation to Xp 11.2 and 8q11.21 [Glover et al., Hum Mol Genet 2:1717-1718, 1993]. Two families, including one of the two initial families with Aarskog-Scott syndrome [Scott, BD:OAS VII (6): 240-246, 1971], have participated in our study to evaluate the localization of the gene for Aarskog-Scott syndrome to the pericentromeric region of the X chromosome. Using a series of DNA probes, we have been able to confirm linkage to the X chromosome, with multipoint analysis indicating the most likely localization of the gene to be on the proximal short arm.
Stevenson
R E
RE
Greenwood Genetic Center, South Carolina 29646.
May
M
M
Arena
J F
JF
Millar
E A
EA
Scott
C I
CI
Schroer
R J
RJ
Simensen
R J
RJ
Lubs
H A
HA
Schwartz
C E
CE
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002503:Centromere / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005837:Genitalia, Male / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*
D005819:Genetic Markers