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Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Sills, J A, Buckton, K E, Raeburn, J A
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 1976
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013478/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1018309/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.6.507
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