Retrospective diagnosis of a Fanconi's anemia patient by dyepoxybutane (DEB) test results in parents.
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Adolescent↗
Biomedical subjects
G Novelli
Publications and source records attributed to G Novelli.
The search for hemizygosity at 22qll in patients with isolated cleft palate.
The striking association between oral clefting and the velocardio-facial syndrome (VCFS), a common disorder pathogenetically related to 22q11 deficiency, has prompted the search for this deletion in a group of patients with isolated cleft palate. (CP). Thirty-three patients with posterior CP and 5 with complete CP were included in this study, together with 12 patients with a clinical diagnosis of VCFS. Standard and high resolution chromosome analysis was performed, providing normal results. Southern blotting followed by densitometric analysis and fluorescent in situ hydridization of region 22q11 showed no single case of deletion among the isolated CP patients, while deficiency was found in 10 of 12 VCFS patients. These results demonstrate that hemizygosity at 22q11 is not increased in isolated CP.
Adolescent↗
RFLP discordance in a PKU family due to a deletion in the PAH gene.
We have previously reported preliminary data on a PKU family showing a discordant segregation of Pvu II (b) alleles at the PAH locus. A combination of several restriction enzymes and probe C2.6 (Intron 2) as well as STR typing were used to dissect the molecular structure of the PAH gene around exon 3. In this family, the results of this analysis and a re-examination of the physical map of the 5'-end of the gene provided strong evidence for the occurrence of a deletion removing exon 3. The "Sicilian" (approximately 2.5 kb) and "Yemenite Jew" (6.7 kb) deletions, the latter one also deleting exon 3, are different in terms of both the 5'-end breakpoint and apparent length. This study, besides adding a new member to the long and increasing list of nearly 200 PAH gene mutations, also proposes to undertake a careful evaluation of RFLP discordances incidentally detected at the PAH locus.
Adolescent↗
[Diagnostic methods and therapeutic options in vasculogenic impotence].
Until a few years ago, the main cause of men's genital impotence was reputed to be psychogenic. On the other hand, the development of diagnostic techniques has been in aid in isolating the most frequent cause of impotence among the organic forms, and in particular those of vascular origin. The authors herein examine the diagnostic methods of vasculogenic impotence and evaluate the therapeutic options in relation to the various causes identified.
Humans↗