Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay i...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Romain, D R, Goldsmith, J, Cairney, H, Columbano-Green, L M, Smythe, R H, Parfitt, R G
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 1990
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017223/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2231653/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.9.588
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak