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1.
Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21-->pter) in a Bedouin child with multiple congenital anomalies and mental retardation.
Redha, A A; Murthy, D S; Kandil, H; Farag, T I; Usha, R; al-Awadi, S A; Jeryan, L A; al-Nagdy, K; el-Ghanem, M.
Indian J Pediatr ; 61(3): 301-6, 1994.
Article in English | MEDLINE | ID: mdl-7960007

Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 8 , Intellectual Disability/genetics , Trisomy , Child, Preschool , Humans , Male
2.
Alagille syndrome with de novo del(20) (p11.2).
Teebi, A S; Murthy, D S; Ismail, E A; Redha, A A.
Am J Med Genet ; 42(1): 35-8, 1992 Jan 01.
Article in English | MEDLINE | ID: mdl-1308363

ABSTRACT

We report on an Arab boy with Alagille syndrome and a de novo deletion of the short arm of chromosome 20 with a 46,XY, del(20)(p11.2) chromosome constitution. Other reported cases are briefly reviewed.


Subject(s)
Alagille Syndrome/genetics , Chromosome Deletion , Chromosomes, Human, Pair 20 , Humans , Infant , Male , Phenotype
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