[MIM 601 362]

(monosomy 10 p, microdeletion chromosome 10)

Rare. Chromosomal, generally de novo, abnormality consisting of the deletion of the terminal part of the short arm of chromosome 10: the phenotype depends on the size of the deletion. It is often associated with a phenocopy of Di George syndrome (DGS) or deletion 22q11 (see CATCH22) with immune deficiency, hypocalcemia and hypoparathyroidism: it is then referred to DGS2.

Association of:

-         facial dysmorphism: prominent bossing of the forehead, short downslanting palpebral fissures, small and misplaced ears, cleft palate, micrognathia, short neck

-         psychomotor retardation

-         cardiac malformation: bicuspid aortic valve, ASD, VSD, pulmonary stenosis, coarctation of the aorta

-         urogenital malformations: aplasia or hypoplasia of one kidney, ureteral anomalies, hypospadias, scrotal hypoplasia

-         and sometimes: hypoplasia of the olfactory bulbs, microcephaly, deafness and malformation of the upper limbs.

Anesthetic implications: 

echocardiography; monitor renal function; risk of difficultf intubation; mental retardation.

References : 

-        Faivre L, Vekemans M. 
Délétion 10pter. 
Encyclopédie Orphanet décembre 1997.

Updated: August 2019