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Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triang...

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Detalles Bibliográficos
Autores principales:	Shin, Yong Beom, Nam, Sang Ook, Seo, Eul-Ju, Kim, Hyung-Hoi, Chang, Chulhun L., Lee, Eun-Yup, Son, Han-Chul, Hwang, Sang-Hyun
Formato:	Texto
Lenguaje:	English
Publicado:	The Korean Academy of Medical Sciences 2008
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610647/ https://www.ncbi.nlm.nih.gov/pubmed/19119457 http://dx.doi.org/10.3346/jkms.2008.23.6.1097

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