Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. Array-CGH analysis revealed one of the smallest de novo microdeletions on chromosome 16q21q22.1, 2.03 Mb in size. Advanced molecular analysis contributes to more precise genotype-phenotype correlation and accurate definition of the breakpoints in the deleted/duplicated regions.
Department of Medical Genetics, University of Athens Medical School, Choremio Research Laboratory, Aghia Sophia Childrens Hospital, Thivon and Levadias, Goudi, Athens, Greece.
Eirini
E
Tsoutsou
Maria
M
Tzetis
Krinio
K
Giannikou
Areti
A
Syrmou
Vasilis
V
Oikonomakis
Konstantina
K
Kosma
Anastasia
A
Kanioura
Emmanuel
E
Kanavakis
Helen
H
Fryssira
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics