Chromosome and blood marker studies in families of patients affected by xeroderma pigmentosum and trichothiodystrophy.
Chromosome and blood marker studies were performed in the families of 4 patients in which the association of 2 rare recessive Mendelian disorders, xeroderma pigmentosum (XP-D) and trichothiodystrophy (TTD), was present. Blood genotypes did not indicate any linkage with the pathologic condition, nor any segregation anomaly. Cytogenetic analysis using high-resolution banding techniques showed a normal karyotype both in the heterozygous and in the homozygous individuals. These findings lead us to exclude a cytologically detectable chromosome rearrangement, such as a microdeletion, as a possible cause of the association of XP-D and TTD in our patients.
Nuzzo
F
F
Istituto di Genetica Biochimica ed Evoluzionistica del C.N.R., Pavia, Italy.
Stefanini
M
M
Rocchi
M
M
Casati
A
A
Colognola
R
R
Lagomarsini
P
P
Marinoni
S
S
Scozzari
R
R
D001789:Blood Group Antigens / Q000235:genetics; D002874:Chromosome Mapping; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000097:blood / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D012871:Skin Diseases / Q000097:blood / Q000235:genetics*; D014983:Xeroderma Pigmentosum / Q000097:blood / Q000235:genetics*
D001789:Blood Group Antigens