The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
We reviewed 36 patients with a deletion of the short arm of chromosome 10 and a partial DiGeorge syndrome. We compared the phenotypes observed in these del(10p) patients with the classical DiGeorge phenotype associated with del(22q11), pointing out both similarities and differences. Some features, such as sensorineural hearing loss, seem to be highly associated with a deletion of 10p but are absent in the classical DiGeorge spectrum caused by del(22q11).
Van Esch
H
H
Groenen
P
P
Fryns
J P
JP
Van de Ven
W
W
Devriendt
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype