Article
Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.
Annales de genetique - 1 Jan 1992
Obregon M G, Mingarelli R, Digilio M C, Zelante L, Giannotti A, Sabatino G, Dallapiccola B
Abstract excerpt
Three unrelated patients with de novo del 11q23-->qter are reported. Clinical features included growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures, eye globe malformations, depressed nasal bridge, "carp-shaped" mouth, highly arched palate, low set and malformed ears. One patient had congenital heart defect, and...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 11
- Face
- Female
- Humans
- Infant, Newborn
- Intellectual Disability
- Male
- Muscle Hypotonia
- Phenotype