Partial deletion 10p syndrome. Report of two patients.
Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.
Obregon
M G
MG
Ospedale Bambino Gesù, IRCCS, Roma, Italy.
Mingarelli
R
R
Giannotti
A
A
di Comite
A
A
Spedicato
F S
FS
Dallapiccola
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome