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Chromosome imbalance, normal phenotype, and imprinting.

A duplication of the sub-bands 1q42.11 and 1q42.12 was found in a boy and his mother. The proband has short stature (around the 10th centile) but a normal phenotype and psychomotor development. His mother is also asymptomatic. We found 30 published cases of normal subjects with an imbalance of autos...

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Bibliografski detalji
Glavni autori: Bortotto, L, Piovan, E, Furlan, R, Rivera, H, Zuffardi, O
Format: Artigo
Jezik:Inglês
Izdano: 1990
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017222/
https://ncbi.nlm.nih.gov/pubmed/2231652
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