Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Abstract Background Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation. Results Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a d...

Full description

Bibliographic Details
Main Authors: Anna A. Kashevarova, Elena O. Belyaeva, Aleksandr M. Nikonov, Olga V. Plotnikova, Nikolay A. Skryabin, Tatyana V. Nikitina, Stanislav A. Vasilyev, Yulia S. Yakovleva, Nadezda P. Babushkina, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Renata R. Savchenko, Lyudmila P. Nazarenko, Igor N. Lebedev
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Molecular Cytogenetics
Subjects:
Compound phenotype
Phelan-McDermid syndrome
FAM19A5 gene
Ring chromosome 22
Chromosome 22 monosomy
Online Access:http://link.springer.com/article/10.1186/s13039-018-0375-3

Internet

http://link.springer.com/article/10.1186/s13039-018-0375-3

Similar Items