Here we describe a Bedouin boy with a de novo duplication of l p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryp
β¦ LIBER β¦
Tandem dup(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies
β Scribed by Elejalde, B. Rafael ;Opitz, John M. ;de Elejalde, Maria Mercedes ;Gilbert, Enid F. ;Abellera, Mario ;Meisner, Lorraine ;Lebel, Robert R. ;Hartigan, J. Michael ;Breg, W. Roy
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 469 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-7299
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