Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

 
 
DownloadE-Mail
  Chromosome deletions in 13q33-34: Report of four patients and review of the literature

Walczak-Sztulpa, J., Wisniewska, M., Latos-Bielenska, A., Linné, M., Kelbova, C., Belitz, B., et al. (2008). Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A, 146(3), 337-342. doi:10.1002/ajmg.a.32127.

Item is

Basisdaten

einblenden: ausblenden:
Genre: Zeitschriftenartikel
Alternativer Titel : Am J Med Genet A

Dateien

einblenden: Dateien
ausblenden: Dateien
:
fulltext.pdf (beliebiger Volltext), 166KB
 
Datei-Permalink:
-
Name:
fulltext.pdf
Beschreibung:
-
OA-Status:
Sichtbarkeit:
Eingeschränkt (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Typ / Prüfsumme:
application/pdf
Technische Metadaten:
Copyright Datum:
-
Copyright Info:
eDoc_access: MPG
Lizenz:
-

Externe Referenzen

einblenden:

Urheber

einblenden:
ausblenden:
 Urheber:
Walczak-Sztulpa, Joanna1, Autor
Wisniewska, Marzena, Autor
Latos-Bielenska, Anna, Autor
Linné, Maja, Autor
Kelbova, Christina, Autor
Belitz, Britta, Autor
Pfeiffer, Lutz, Autor
Kalscheuer, Vera M.2, Autor           
Erdogan, Fikret3, Autor           
Kuss, Andreas W.4, Autor           
Ropers, Hans-Hilger3, Autor           
Ullmann, Reinhard5, Autor           
Tzschach, Andreas3, Autor           
Affiliations:
1Max Planck Society, ou_persistent13              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
5Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

Inhalt

einblenden:
ausblenden:
Schlagwörter: deletion 13q33-34 • mental retardation • array-CGH • microcephaly • EFNB2 • ARHGEF7
 Zusammenfassung: Deletions of chromosome bands 13q33-34 are rare. Patients with such deletions have mental retardation, microcephaly, and distinct facial features. Male patients frequently also have genital malformations. We report on four patients with three overlapping deletions of 13q33-34 that have been characterized by tiling-path array-CGH. Patient 1 had mental retardation and microcephaly with an interstitial 4.7 Mb deletion and a translocation t(12;13)(q13.3;q32.3). His mother (Patient 2), who also had mental retardation and microcephaly, carried the identical chromosome aberration. Patient 3 was a girl with a de novo insertion ins(7;13)(p15.1;q22q31) and interstitial 4.5 Mb deletion in 13q33-34. She had mental retardation and microcephaly. Patient 4 was a newborn boy with severe genital malformation (penoscrotal transposition and hypospadias) and microcephaly. He had a de novo ring chromosome 13 lacking the terminal 9.3 Mb of 13q. Karyotype-phenotype comparisons of these and eight previously published del13q33-34 patients suggest EFNB2 as a candidate gene for genital malformations in males. Molecular cytogenetic definition of a common deleted region in all patients suggests ARHGEF7 as a candidate gene for mental retardation and microcephaly.

Details

einblenden:
ausblenden:
Sprache(n): eng - English
 Datum: 2008-01-17
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: American Journal of Medical Genetics Part A
  Alternativer Titel : Am J Med Genet A
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 146 (3) Artikelnummer: - Start- / Endseite: 337 - 342 Identifikator: -