Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.
Balasubramanian
Meena
M
Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Southampton, UK. meena.balasubramanian@nhs.net
Barber
John C K
JC
Collinson
Morag N
MN
Huang
Shuwen
S
Maloney
Viv K
VK
Bunyan
Dave
D
Foulds
Nicki
N
D000782:Aneuploidy; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype; D013577:Syndrome