Article
Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
American journal of medical genetics - 15 Dec 2002
Brisset S, Joly G, Ozilou C, Lapierre J-M, Gosset Ph, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana S P
Abstract excerpt
We describe a 3(1/2)-year-old girl with psychomotor and mental retardation; dysmorphic features, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital hypoplasia; and anal abnormalities. The karyotype of our patient (550 bands) was normal. Molecular cytogenetic techniques,...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosomes, Human, Pair 16
- Chromosomes, Human, Pair 7
- Cytogenetic Analysis
- Female
- Heart Defects, Congenital
- Hereditary Sensory and Motor Neuropathy
- Humans
- Musculoskeletal Abnormalities
- Osteochondrodysplasias
- Phenotype