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 i...

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Veröffentlicht in:	American journal of medical genetics 1988-01, Vol.29 (1), p.43-48
Hauptverfasser:	Leung, Alexander K. C., Rudd, Noreen L., Optiz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 9 Esophagus Face - abnormalities failure to thrive Gastroenterology. Liver. Pancreas. Abdomen Gastroesophageal Reflux - genetics Humans Infant Male Medical sciences Mosaicism Other diseases. Semiology regurgitation ring chromosome 9/del(9p) syndrome Ring Chromosomes
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Beschreibung
Zusammenfassung:	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.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320290106