Vol 7: Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Reportar como inadecuado



 Vol 7: Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.


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This article is from Molecular Cytogenetics, volume 7.AbstractBackground: The 15q11-q13 region contains many low copy repeats and is well known for its genomic instability. Several syndromes are associated with genomic imbalance or copy-number-neutral uniparental disomy. We report on two patients: Patient 1 is a boy with developmental delay and aut

Autor: Tan, Ee-Shien; Yong, Min-Hwee; Lim, Eileen CP; Li, Zhi-hui; Brett, Maggie SY; Tan, Ene-Choo

Fuente: https://archive.org/







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