Terminal deletion of the long arm of chromosome 10: case report and review of the literature.
We report on a newborn girl with a terminal deletion of the long arm of chromosome 10: del (10)(pter----q26). The phenotypic manifestations are compatible with those of the previously reported cases. In addition, the association with abnormalities of the urinary tract is reported for the first time. A clinical and neurodevelopmental follow-up is described up to age 18 months.
Gorinati
M
M
Divisione Pediatrica, Presidio Ospedaliero, Conegliano, Treviso, Italy.
Zamboni
G
G
Padoin
N
N
Dodero
A
A
Caufin
D
D
Memo
L
L
D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D005149:Facial Expression; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D014551:Urinary Tract / Q000002:abnormalities