1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
We report on a patient with a de novo microdeletion 3q29 detected by molecular karyotyping using array CGH analysis. The girl displayed microphthalmia and cataract, hyperplastic pyloric stenosis, mild dysmorphic facial features, and developmental delay. Array CGH analysis uncovered a 1.6Mb deletion within chromosome band 3q29, which overlaps with the commonly deleted region in 3q29 microdeletion syndrome. According to published data, none of the patients with deletion 3q29 showed either congenital cataract and microphthalmia, or other ocular features. Our report expands the phenotypic spectrum of the 3q29 microdeletion syndrome by adding structural eye malformations.
Tyshchenko
Nataliya
N
Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany. nataliya.tyshchenko@tu-dresden.de
Hackmann
Karl
K
Gerlach
Eva-Maria
EM
Neuhann
Teresa
T
Schrock
Evelin
E
Tinschert
Sigrid
S
D002386:Cataract; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D023281:Genomics / Q000379:methods; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008850:Microphthalmos