Back to Search Start Over

Partial deletion 10p syndrome. Report of two patients.

Authors :
Obregon MG
Mingarelli R
Giannotti A
di Comite A
Spedicato FS
Dallapiccola B
Source :
Annales de genetique [Ann Genet] 1992; Vol. 35 (2), pp. 101-4.
Publication Year :
1992

Abstract

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.

Details

Language :
English
ISSN :
0003-3995
Volume :
35
Issue :
2
Database :
MEDLINE
Journal :
Annales de genetique
Publication Type :
Academic Journal
Accession number :
1524405