Ontology highlight
ABSTRACT:
SUBMITTER: Mendez-Rosado LA
PROVIDER: S-EPMC5548530 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Mendez-Rosado Luis Alberto LA Lantigua Araceli A Galarza Juan J Hamid Al-Rikabi Ahmed B AB Ziegler Monika M Liehr Thomas T
Journal of pediatric genetics 20170307 3
Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chromosome 5. Microdissection and reverse fluorescence in situ hybridization identified the in 5p13.1 inserted part as 17p12-p11.2 material. Thus the patient suffered from a rare combination of genomic di ...[more]