Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approach.
A new approach for the detection of chromosome deletion 22q11.2 in interphase nuclei from buccal mucosa cells obtained by a non-invasive procedure is described. FISH analysis has been performed on samples from a group of 101 patients that presented consecutively for speech therapy and/or surgical correction of cleft palate. A normal result has been obtained in 98 patients; a deletion 22q11.2 was present in three patients (2.8%) with cleft palate.
Shouman
N
N
Department of Human Genetics, Hannover Medical University, 30623 Hannover, Germany.
Pabst
B
B
Arslan-Kirchner
M
M
Eckardt
A
A
Schönweiler
R
R
Ptok
M
M
Mehraein
Y
Y
Schmidtke
J
J
Miller
K
K
D000293:Adolescent; D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004847:Epithelial Cells / Q000473:pathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007399:Interphase; D008297:Male; D009061:Mouth Mucosa / Q000473:pathology