Zobrazeno 1 - 3
of 3
pro vyhledávání: '"W M Pfaffenzeller"'
Publikováno v:
Annals of the New York Academy of Sciences. 1151
True hermaphroditism is defined by the presence of both testicular and ovarian tissue in an individual. True hermaphrodites usually present at birth with ambiguous genitalia, and subsequent invasive investigations are needed to confirm the diagnosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7304b4a97401fedee442eb1287dbfcd6
https://pubmed.ncbi.nlm.nih.gov/19154517
https://pubmed.ncbi.nlm.nih.gov/19154517
Publikováno v:
American journal of medical genetics. 95(5)
We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. Survival was s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::495600267b56a61d14cb7c7b828ea2ab
https://pubmed.ncbi.nlm.nih.gov/11146458
https://pubmed.ncbi.nlm.nih.gov/11146458
Publikováno v:
Clinical dysmorphology. 9(3)
The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56deeae349488134a2391882ca8b4319
https://pubmed.ncbi.nlm.nih.gov/10955474
https://pubmed.ncbi.nlm.nih.gov/10955474