X-linked laterality sequence in a family with carrier manifestations.
X-linked laterality sequence (XLLS) consists of situs inversus, complex cardiac defects, and alterations in the development of the spleen. We describe a family in which two male cousins had XLLS with caudal manifestations. In our family, the obligate carrier females had uterine septum and hypertelorism, which may be gene carrier manifestations.
Mikkilä
S P
SP
Department of Clinical Genetics, Tampere University Hospital, Finland.
Janas
M
M
Karikoski
R
R
Tarkkila
T
T
Simola
K O
KO
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012857:Situs Inversus / Q000235:genetics; D013154:Spleen / Q000002:abnormalities / Q000254:growth & development; D014960:X Chromosome