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.
CHROMOSOME AND BLOOD MARKER STUDIES IN FAMILIES OF PATIENTS AFFECTED BY XERODERMA PIGMENTOSUM AND TRICHOTHIODYSTROPHY / F., Nuzzo; M., Stefanini; M., Rocchi; A., Casati; R., Colognola; P., Lagomarsini; S., Marinoni; Scozzari, Rosaria. - In: MUTATION RESEARCH. - ISSN 0027-5107. - 208:3-4(1988), pp. 159-161. [10.1016/0165-7992(88)90053-x]
CHROMOSOME AND BLOOD MARKER STUDIES IN FAMILIES OF PATIENTS AFFECTED BY XERODERMA PIGMENTOSUM AND TRICHOTHIODYSTROPHY
SCOZZARI, Rosaria
1988
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
