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Your search keyword '"Perotti D"' showing total 5 results
Start Over Author "Perotti D" Journal american journal of medical genetics part a
5 results on '"Perotti D"'

2. Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.

Author

Spreafico F, Notarangelo LD, Schumacher RF, Savoldi G, Gamba B, Terenziani M, Collini P, Fasoli S, Giordano L, Luisa B, Porta F, Massimino M, Radice P, and Perotti D

Subjects
Child, Preschool, DNA Mutational Analysis, Female, Histological Techniques, Humans, Loss of Heterozygosity, Molecular Sequence Data, Tuberous Sclerosis complications, Tuberous Sclerosis pathology, Tuberous Sclerosis Complex 2 Protein, WT1 Proteins genetics, Wilms Tumor etiology, Base Sequence genetics, Phenotype, Sequence Deletion genetics, Tuberous Sclerosis genetics, Tumor Suppressor Proteins genetics, Wilms Tumor pathology
Abstract

We report on a girl affected with tuberous sclerosis, carrying a germline de novo TSC2 mutation, c.4934-4935delTT, leading to a p.F1645CfsX7, who developed a unilateral Wilms tumor (WT). Molecular investigation of the tumor biopsy at diagnosis revealed the loss of the constitutional wild-type TSC2 allele, and loss of heterozygosity for the WT1 gene. Deletion of the WTX gene was also present, but it involved the functionally inactive X chromosome. No mutation affecting the remaining WT1 and WTX alleles, as well as the CTNNB1 gene was found. Pathological examination of the surgical specimen documented the presence of diffuse anaplasia and p53 immunoreactivity. To the best of our knowledge, this is the second report of a patient with tuberous sclerosis who developed a WT, and it represents the first case in which a detailed clinical and molecular description is provided., (Copyright © 2011 Wiley-Liss, Inc.)

Published
2011
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3. Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.

Author

Carella M, Spreafico F, Palumbo O, Storlazzi CT, Tabano S, Miozzo M, Miglionico L, Calvano S, Sindici G, Gamba B, Impera L, Collini P, Zelante L, Radice P, and Perotti D

Subjects
Adult, Child, Preschool, Comparative Genomic Hybridization, DNA Copy Number Variations genetics, DNA Methylation genetics, Female, Genotype, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Karyotyping, Leukocytes, Mononuclear metabolism, Male, Pregnancy, Promoter Regions, Genetic genetics, Young Adult, Chromosomes, Human, Pair 11 genetics, Cytogenetic Analysis, Mosaicism, Ring Chromosomes, Wilms Tumor genetics, Wilms Tumor pathology
Abstract

We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8 Mb at 11p15.5-11p15.4. This duplication was found to involve the chromosome of paternal origin, and occurred in tandem on the ring chromosome 11. Despite the constitutive duplication of the paternal 11p15 chromosome region, the patient showed no sign of Beckwith-Wiedemann syndrome. However, the molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development., ((c) 2010 Wiley-Liss, Inc.)

Published
2010
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4. Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case.

Author

Spreafico F, Terenziani M, Lualdi E, Scarfone P, Collini P, Fossati-Bellani F, Galea E, De Vecchi G, Sardella M, Sozzi G, Radice P, and Perotti D

Subjects
Child, Preschool, Chromosomes, Human, Pair 11 genetics, Cytogenetic Analysis, Down Syndrome complications, Down Syndrome genetics, Female, Humans, Kidney Neoplasms complications, Kidney Neoplasms diagnosis, Male, Syndrome, Turner Syndrome complications, Turner Syndrome genetics, Wilms Tumor complications, Wilms Tumor diagnosis, Down Syndrome diagnosis, Kidney Neoplasms genetics, Turner Syndrome diagnosis, Wilms Tumor genetics
Published
2007
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5. Bilateral preaxial polydactyly in a WAGR syndrome patient.

Author

Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, and Perotti D

Subjects
Abnormalities, Multiple pathology, Child, Preschool, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 11 genetics, DNA genetics, Female, Hallux, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Microsatellite Repeats, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, WT1 Proteins genetics, Abnormalities, Multiple genetics, Polydactyly pathology, WAGR Syndrome pathology
Abstract

We report on a 30-month-old baby girl with typical clinical features of WAGR syndrome. In addition, the patient showed bilateral preaxial polydactyly of the feet. Cytogenetic and fluorescent in situ hybridization (FISH) analyses identified a deletion, del(11)(p13p14.1), extending from 6.1 to 21.7 Mb in size. Although the simultaneous appearance of WAGR and polydactyly has been already described, to our knowledge this is the first case in which the characterization at the cytogenetic molecular level of a patient with these phenotypes is reported. These observations indicate that preaxial polydactyly may be another feature of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity., (2005 Wiley-Liss, Inc.)

Published
2005
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