Mild developmental delay in terminal chromosome 6p deletion.
Deletions involving the short arm of chromosome 6 are relatively rare. Although features of this condition are variable, common findings include developmental delay, ocular abnormalities, hearing loss, and cardiac defects. In an effort to define further the clinical variability of this condition, we report a 6-year-old female with a de novo terminal deletion of chromosome 6 at band 6p24, with mild gross motor delays and normal cognition.
Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Stanford, California 94305-5208, USA.
Kelly M
KM
Chen
Athena M
AM
Cherry
Jin S
JS
Hahn
Gregory M
GM
Enns
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging