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47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?

A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnor...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Bass, H N, Weber-Parisi, F, Sparkes, R S
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 1978
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013738/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/739531/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.5.391
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