Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly.
We report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).
Sawyer
J R
JR
Department of Pathology, University of Arkansas of Medical Sciences, Arkansas Children's Hospital, Little Rock, USA.
Lukacs
J L
JL
Hassed
S J
SJ
Arnold
G L
GL
Mitchell
H F
HF
Muenke
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D002971:Cleft Lip / Q000235:genetics; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011014:Pneumonia / Q000150:complications; D011247:Pregnancy; D012303:Ring Chromosomes