UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 9 von 353
Datensatz exportieren als...
BibTeX
Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques
Prenatal diagnosis, 2003-09, Vol.23 (9), p.747-751
de Pater, J. M.
Govaerts, L. C. P.
de Man, S. A.
van der Sijs-Bos, C. J. M.
Christiaens, G. C. M. L.
van Dam, W. M.
Loneus, W. H.
Engelen, J. J. M.
2003
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
de Pater, J. M.
Govaerts, L. C. P.
de Man, S. A.
van der Sijs-Bos, C. J. M.
Christiaens, G. C. M. L.
van Dam, W. M.
Loneus, W. H.
Engelen, J. J. M.
Titel
Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques
Ist Teil von
Prenatal diagnosis, 2003-09, Vol.23 (9), p.747-751
Ort / Verlag
Chichester, UK: John Wiley & Sons, Ltd
Erscheinungsjahr
2003
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Objective This study aimed to identify a marker chromosome and characterize the short arm of a derivative chromosome 5 in a foetus with the following karyotype: mos 47,XX,del(5)(p?),+i(5)(p10)[50]/48,XX,del(5)(p?),+i(5)(p10),+mar[25]. Method Amniocentesis was performed in the 26th week of pregnancy because of ultrasound abnormalities (polyhydramnion and decreased amount of gastric filling). All classic banding techniques were performed. FISH and microdissection combined with reverse painting were used to reveal the exact origin of the marker and any extra material on the deleted chromosome 5p. The parents decided to continue the pregnancy and we compared the clinical features of the child born in week 34 with data from the literature on trisomy 5p. The possible contribution of trisomy of the centromeric region of chromosome 8 and trisomy 8p23.3→8pter to this clinical picture was evaluated. Results GTG banding showed one normal and two aberrant chromosomes 5 [del(5)(p?) and i(5)(p10)] in all the cells examined. Furthermore, a supernumerary marker chromosome was present in approximately 30% of the cells. The marker was CBG positive and positive with the pancentromere probe, but dystamicinA/DAPI negative. It did not contain NOR‐positive satellites. FISH proved this marker to be derived from the centromeric region of chromosome 8. MicroFISH disclosed the aberrant chromosome 5 as der(5)t(5;8)(p10;p23.3). The parent's karyotypes were normal. The baby showed the characteristic features of trisomy 5p syndrome. She died at the age of 15 days after cardiorespiratory arrest. Conclusion The karyotype was interpreted as mos 47,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10) (WCP5+,D5S23+)[50]/48,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10)(WCP5+,D5S23+),+mar.ish 8(p10q10)(D8Z2+,WCP8‐)[25]. Therefore, the baby had complete trisomy 5p, with trisomy of the distal part of 8p and of the centromeric region of chromosome 8. The clinical significance of de novo marker chromosomes is a major problem in prenatal counselling. Molecular cytogenetic tools such as FISH and microFISH are indispensable for characterizing markers and determining the breakpoints more precisely in deleted chromosomes. Copyright © 2003 John Wiley & Sons, Ltd.
Sprache
Englisch
Identifikatoren
ISSN: 0197-3851
eISSN: 1097-0223
DOI: 10.1002/pd.653
Titel-ID: cdi_proquest_miscellaneous_73652133
Format
–
Schlagworte
Adult
,
Amniocentesis
,
Biological and medical sciences
,
Chromosomes, Human, Pair 5
,
Diagnosis, Differential
,
Esophageal Atresia - diagnostic imaging
,
Esophageal Atresia - embryology
,
Fatal Outcome
,
Female
,
FISH
,
Genetic Counseling
,
Gynecology. Andrology. Obstetrics
,
Humans
,
In Situ Hybridization, Fluorescence
,
Infant, Newborn
,
Management. Prenatal diagnosis
,
marker chromosome 8
,
Medical sciences
,
microFISH
,
partial trisomy 8p
,
Polyhydramnios - diagnostic imaging
,
Pregnancy
,
Pregnancy Trimester, Third
,
Pregnancy. Fetus. Placenta
,
Prenatal Diagnosis
,
Trisomy - diagnosis
,
Trisomy - genetics
,
trisomy 5p
,
Ultrasonography, Prenatal
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX