Article
De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome?
Annales de genetique - 1 Jan 1996
Redha M A, Krishna Murthy D S, al-Awadi S A, al-Sulaiman I S, Sabry M A, el-Bahey S A, Farag T I
Abstract excerpt
A 3-year-6-month old Lebanese female child with multiple congenital anomalies including, facial dysmorphism, prominent low set ears, micrognathia, anti-mongoloid palpebral fissures and psychomotor retardation was investigated. Her karyotype showed de novo 46, XX, dir dup (7)(p11.2-->pter). The ph...
Topics
- Abnormalities, Multiple
- Arabs
- Child, Preschool
- Chromosomes, Human, Pair 7
- Female
- Humans
- Karyotyping
- Multigene Family
- Phenotype
- Syndrome
- Trisomy