Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.
Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Cindy
C
Hudson
Corbin
C
Schwanke
John P
JP
Johnson
Abdallah F
AF
Elias
Sandy
S
Phillips
Tammy
T
Schwalbe
Mary
M
Tunby
Dongbin
D
Xu
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics*