A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.
Shimojima
Keiko
K
International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Japan. shimojima@imcir.twmu.ac.jp
Saito
Kayoko
K
Yamamoto
Toshiyuki
T
D020029:Base Pairing / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000150:complications* / Q000235:genetics*; D020161:Physical Chromosome Mapping