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Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

A newborn female infant presented with the classical picture of 18 trisomy syndrome. Her karyotyping was 47,XX,+der(18)t(12;18)(q24;q21)mat. The mother was a balanced reciprocal translocation carrier and so too was one of the two maternal uncles of the proposita, indicating that the translocation wa...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:J Med Genet
Päätekijät: Fried, K, Bar-Yochai, A, Rosenblatt, M, Mundel, G
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 1978
Aiheet:
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1012829/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/633321/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.1.76
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