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Multiple supernumerary ring chromosomes of different origin in a patient: A clinical report and review of the literature
American journal of medical genetics, 2003-10, Vol.122A (2), p.168-173
Beverstock, Geoff C.
Bezrookove, Vladimir
Mollevanger, Paul
van de Kamp, Jacques J.P.
Pearson, Peter
Kouwenberg, Jan M.
Rosenberg, Carla
2003
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Beverstock, Geoff C.
Bezrookove, Vladimir
Mollevanger, Paul
van de Kamp, Jacques J.P.
Pearson, Peter
Kouwenberg, Jan M.
Rosenberg, Carla
Titel
Multiple supernumerary ring chromosomes of different origin in a patient: A clinical report and review of the literature
Ist Teil von
American journal of medical genetics, 2003-10, Vol.122A (2), p.168-173
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2003
Quelle
MEDLINE
Beschreibungen/Notizen
We describe a patient with multiple congenital abnormalities exhibiting 2–5 supernumerary chromosomes per cells. A variety of FISH techniques were used to demonstrate that the markers are probably rings, lack detectable telomere sequences, and originate from different non‐acrocentric chromosomes, namely 6, 7, 10, 12, and 19. Such cases are extremely rare and this is only the 8th published report of an individual presenting three or more supernumerary chromosomes. We reviewed all available cases of multiple supernumerary chromosomes and the collective data indicate that multiple markers seem always to be rings of different origin. These results provide evidence that such multiple ring markers cannot possibly represent duplication or recurrence of an original structural rearrangement but must be derived with a common causality from different chromosomes. Possible mechanisms for the simultaneous production of multiple rings from different chromosomes are proposed, including the breakdown and rearrangement of a haploid complement shortly after fertilization in a triploid zygote. © 2003 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825, 0148-7299
eISSN: 1552-4833, 1096-8628
DOI: 10.1002/ajmg.a.20163
Titel-ID: cdi_proquest_miscellaneous_73621208
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Biological and medical sciences
,
Fatal Outcome
,
General aspects. Genetic counseling
,
Humans
,
In Situ Hybridization, Fluorescence
,
Infant
,
Karyotyping
,
Medical genetics
,
Medical sciences
,
multicolor FISH
,
Ring Chromosomes
,
supernumerary chromosomes
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