A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux.
We present a male infant with r(9) and del(9p) mosaicism and chromosome constitution of 46,XY,r(9) (p22;q34)/46,XY,del(9) (p22). This patient also had gastroesophageal reflux with persistent regurgitation and resultant failure to thrive. The association of this syndrome with gastroesophageal reflux is emphasized.
Leung
A K
AK
Department of Pediatrics, University of Calgary, Alberta Children's Hospital, Canada.
Rudd
N L
NL
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities; D005764:Gastroesophageal Reflux / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes