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  1. Article ; Online: Familial trisomy 6p in mother and daughter.

    Savarese, Marco / Grandone, Anna / Perone, Lucia / Blanco, Francesca Del Vecchio / De Luca, Giuseppina / Di Fruscio, Giuseppina / Fogu, Giuseppina / Piluso, Giulio / Perrone, Laura / del Giudice, Emanuele Miraglia / Nigro, Vincenzo

    American journal of medical genetics. Part A

    2013  Volume 161A, Issue 7, Page(s) 1675–1681

    Abstract: Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial ... ...

    Abstract Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11-year-old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances, immunodeficiency, and epilepsy. Conventional cytogenetic analysis showed a duplication of the 6p region in the patient and in her mother presenting with a partially overlapping phenotype. The rearrangement was confirmed and defined by molecular cytogenetic analysis, including FISH and array CGH analysis showing a gain of ~13.8 Mb from 6p12.3 to 6p21.31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature.
    MeSH term(s) Body Height/genetics ; Child ; Chromosomes, Human, Pair 6/genetics ; Epilepsy/genetics ; Face/abnormalities ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Mothers ; Nuclear Family ; Phenotype ; Trisomy/genetics ; Trisomy/physiopathology
    Language English
    Publishing date 2013-05-17
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.35928
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
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  2. Article ; Online: Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature.

    Cambosu, Francesca / Capobianco, Giampiero / Fogu, Giuseppina / Bandiera, Pasquale / Pirino, Alessio / Moro, Maria Antonietta / Sanna, Raimonda / Soro, Giovanna / Dessole, Margherita / Montella, Andrea

    The journal of obstetrics and gynaecology research

    2013  Volume 39, Issue 2, Page(s) 592–597

    Abstract: Partial trisomy of the long arm of chromosome 1 is a relatively rare cytogenetic anomaly. Its phenotype has still not been completely defined, because of the cytogenetic heterogeneity of the cases so far described. We report a prenatal case of partial 1q ...

    Abstract Partial trisomy of the long arm of chromosome 1 is a relatively rare cytogenetic anomaly. Its phenotype has still not been completely defined, because of the cytogenetic heterogeneity of the cases so far described. We report a prenatal case of partial 1q trisomy associated with partial monosomy 4q, secondary to balanced maternal translocation t(1;4). The trisomic segment extended from 1q31.1 to qter and the monosomy 4q was from 4q35.2 to qter. The phenotypic anomalies found by post-mortem and autopsy examinations were compared with those of similar cases reported in the literature. We performed standard cytogenetics and fluorescence in situ hybridization. Cerebral ventriculomegaly, present in our case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with ventriculomegaly.
    MeSH term(s) Abortion, Eugenic ; Adult ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 4 ; Cytogenetic Analysis ; Female ; Humans ; Hydrocephalus/diagnosis ; Hydrocephalus/genetics ; Hydrocephalus/pathology ; In Situ Hybridization, Fluorescence ; Monosomy/genetics ; Pregnancy ; Prenatal Diagnosis ; Trisomy/diagnosis ; Trisomy/genetics ; Trisomy/pathology
    Language English
    Publishing date 2013-02
    Publishing country Australia
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1327307-3
    ISSN 1447-0756 ; 1341-8076
    ISSN (online) 1447-0756
    ISSN 1341-8076
    DOI 10.1111/j.1447-0756.2012.01986.x
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  3. Article: Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis.

    Fogu, Giuseppina / Bertini, Veronica / Dessole, Salvatore / Bandiera, Pasquale / Campus, Paola Maria / Capobianco, Giampiero / Sanna, Raimonda / Soro, Giovanna / Montella, Andrea

    Archives of gynecology and obstetrics

    2003  Volume 269, Issue 1, Page(s) 25–29

    Abstract: We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several members from three generations. We identified the mutant allele by Polymerase Chain Reaction (PCR) ... ...

    Abstract We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several members from three generations. We identified the mutant allele by Polymerase Chain Reaction (PCR) amplification of the short tandem repeat (CAG)n, highly polymorphic in the population, present in the first exon of the androgen receptor (AR) gene. In this family four different alleles were detected and one of these showed a perfect segregation with the disease. This study enabled us to identify the heterozygous females in this family. We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied.
    MeSH term(s) Adolescent ; Adult ; Alleles ; Androgen-Insensitivity Syndrome/diagnosis ; Androgen-Insensitivity Syndrome/genetics ; Androgen-Insensitivity Syndrome/pathology ; Chromosome Banding ; DNA/chemistry ; DNA/genetics ; Female ; Genetic Linkage/genetics ; Heterozygote ; Humans ; Male ; Pedigree ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Receptors, Androgen/genetics ; Sex Chromosome Aberrations ; Tandem Repeat Sequences/genetics
    Chemical Substances Receptors, Androgen ; DNA (9007-49-2)
    Language English
    Publishing date 2003-11
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 896455-5
    ISSN 1432-0711 ; 0932-0067
    ISSN (online) 1432-0711
    ISSN 0932-0067
    DOI 10.1007/s00404-002-0386-4
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  4. Article: Patau syndrome with long survival in a case of unusual mosaic trisomy 13.

    Fogu, Giuseppina / Maserati, Emanuela / Cambosu, Francesca / Moro, Maria Antonietta / Poddie, Fausto / Soro, Giovanna / Bandiera, Pasquale / Serra, Gigliola / Tusacciu, Gianni / Sanna, Giuseppina / Mazzarello, Vittorio / Montella, Andrea

    European journal of medical genetics

    2008  Volume 51, Issue 4, Page(s) 303–314

    Abstract: We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in ... ...

    Abstract We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported.
    MeSH term(s) Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Cell Lineage/genetics ; Child ; Chromosomes, Human, Pair 13/genetics ; Female ; Humans ; Infant, Newborn ; Male ; Mosaicism ; Survivors ; Syndrome ; Trisomy/genetics
    Language English
    Publishing date 2008-07
    Publishing country Netherlands
    Document type Case Reports ; Comparative Study ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2008.03.004
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    Zs.A 84/9: Show issues Location:
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  5. Article: Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies.

    Fogu, Giuseppina / Bandiera, Pasquale / Cambosu, Francesca / Carta, Anna Rita / Pilo, Laura / Serra, Gigliola / Soro, Giovanna / Tondi, Massimo / Tusacciu, Gianni / Montella, Andrea

    European journal of medical genetics

    2007  Volume 50, Issue 2, Page(s) 103–111

    Abstract: We describe two malformed infants with trisomy 6p12.1-p22.1 due to 12/6 interchromosomal insertion. The phenotypic data observed in these patients are compared chiefly with a case cytogenetically similar described by Villa et al. [A. Villa, E.G. Gomez, L. ...

    Abstract We describe two malformed infants with trisomy 6p12.1-p22.1 due to 12/6 interchromosomal insertion. The phenotypic data observed in these patients are compared chiefly with a case cytogenetically similar described by Villa et al. [A. Villa, E.G. Gomez, L. Rodriguez, R.H. Rastrollo, M.E. Martinez Tallo, M.L. Martinez-Frias, Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3), Am. J. Med. Genet. 90 (2000) 369-375]. All three infants are trisomic for a genomic segment which largely overlaps that reported as duplicated in previous cases, but with the addition of a more proximal segment, extending from 6p12 to 6p21. We suggest that some of their phenotypic anomalies are due to the trisomy of this chromosomal region. We also speculate on the possible role played by the TFAP2B (Transcription Factor AP2-beta) gene, which is one of the genes mapped on the duplicated segment.
    MeSH term(s) Abnormalities, Multiple/genetics ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 6 ; Fatal Outcome ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Mutagenesis, Insertional ; Transcription Factor AP-2/genetics ; Trisomy
    Chemical Substances TFAP2B protein, human ; Transcription Factor AP-2
    Language English
    Publishing date 2007-03
    Publishing country Netherlands
    Document type Case Reports ; Comparative Study ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2006.11.002
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    In stock of ZB MED Cologne/Königswinter

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