Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature.
A 12-month-old female infant with developmental delay, growth retardation, and dysmorphic features including dolichocephaly, telecanthus, ptosis, flat nasal bridge, anteverted nares, high-arched palate, carp-shaped mouth, micro-retrognathia, and low-set and posteriorly rotated ears was found to have an interstitial deletion of chromosome 11 involving bands q14-q22. Immunoblot analysis of her fibroblasts revealed a normal amount of mitochondrial acetoacetyl-coenzyme A thiolase, of which gene locus has been assigned to chromosome 11q22.3-q23.1. This result suggested that the region around the boundary of 11q22.3-q23.1 was intact in this patient.
Wakazono
A
A
Department of Pediatrics, Gifu University School of Medicine, Japan.
Masuno
M
M
Yamaguchi
S
S
Tsubouchi
K
K
Kondo
N
N
Orii
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping