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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Shin, Yong Beom, Nam, Sang Ook, Seo, Eul-Ju, Kim, Hyung-Hoi, Chang, Chulhun L., Lee, Eun-Yup, Son, Han-Chul, Hwang, Sang-Hyun
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Korean Academy of Medical Sciences 2008
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2610647/
https://ncbi.nlm.nih.gov/pubmed/19119457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2008.23.6.1097
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