Ontology highlight
ABSTRACT:
SUBMITTER: Shin YB
PROVIDER: S-EPMC2610647 | biostudies-literature | 2008 Dec
REPOSITORIES: biostudies-literature
Shin Yong Beom YB Nam Sang Ook SO Seo Eul-Ju EJ Kim Hyung-Hoi HH Chang Chulhun L CL Lee Eun-Yup EY Son Han-Chul HC Hwang Sang-Hyun SH
Journal of Korean medical science 20081224 6
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 triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation. We utilized whole genomic array comparative genome hybridization (CGH) with 4,000 se ...[more]