Zobrazeno 1 - 3
of 3
pro vyhledávání: '"H A, Heilstedt"'
Publikováno v:
Clinical genetics. 64(4)
Monosomy 1p36 is a relatively common chromosome deletion. Deletion of this chromosome band can be difficult to visualize using routine cytogenetic banding techniques. The use of fluorescence in situ hybridization (FISH) with telomere region-specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf6d951c23ac80a62270b54bd0734396
https://pubmed.ncbi.nlm.nih.gov/12974736
https://pubmed.ncbi.nlm.nih.gov/12974736
Publikováno v:
American journal of medical genetics. 94(2)
We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::75fbc100bab6c48350c545260065df40
https://pubmed.ncbi.nlm.nih.gov/10982966
https://pubmed.ncbi.nlm.nih.gov/10982966
Publikováno v:
Clinical genetics. 56(2)
Chromosome 1p duplications are rare. There have been only 11 reported cases of isolated 1p duplication, all of which were proximal, interstitial duplications. We present a patient with a terminal duplication of 1p (1p36.3). To our knowledge, this is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1da79dbf378775f1f357e850cca95c71
https://pubmed.ncbi.nlm.nih.gov/10517248
https://pubmed.ncbi.nlm.nih.gov/10517248