Three new cases with a supernumerary ring chromosome 1

q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature. -->
ISSN: 0962-8827
DOI: 10.1097/00019605-200510000-00001
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::b74d3dc81a23ece339540861affd6723
https://doi.org/10.1097/00019605-200510000-00001
Přírůstkové číslo: edsair.doi...........b74d3dc81a23ece339540861affd6723
Autor: Maria Martínez-Frías, Laura Rodríguez, Nieves Martínez Guardia, Heidemarie Neitzel, Peter Kozlowski, Anita Heller, Elena Mansilla, Thomas Liehr, M. Santos Muñoz, Holger Tönnies, Fermina López Grondona, M.-L. Mazauric, Heike Starke
Rok vydání: 2005
Předmět:
Zdroj: Clinical Dysmorphology. 14:169-175
ISSN: 0962-8827
DOI: 10.1097/00019605-200510000-00001
Popis: We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-->q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.
Databáze: OpenAIRE
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