Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mary Rauer"'
Autor:
Katarina Szego, Mary Rauer, Margaret Chao, Joe J. Hoo, Catherine J. Harris, Susan C. Echiverri
Publikováno v:
American journal of medical genetics. 58(4)
We present 4 recently diagnosed cases of inverted tandem duplication with involvement of the respective terminal band. Based on these 4 cases and review of the literature, the term {open_quotes}inverted terminal duplication{close_quotes} is proposed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0516964fd49293241b1faadccbde7c
https://pubmed.ncbi.nlm.nih.gov/8533837
https://pubmed.ncbi.nlm.nih.gov/8533837
Publikováno v:
American journal of medical genetics. 46(1)
De novo supernumerary small ring chromosomes have mainly been reported in pediatric patients with clinical abnormalities, thus, there may be bias of ascertainment. Reports on prenatally diagnosed cases with postnatal follow-up are rare. With the avai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a351f26d6380b4acd80188c7dde97f58
https://pubmed.ncbi.nlm.nih.gov/8494036
https://pubmed.ncbi.nlm.nih.gov/8494036