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Interstitial deletion of band q12 of chromosome 5 |
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| Authors: | Gertrud Dudin Denis Alexander Fayrouz Talj Mary Deeb Salim Musallam Vazken M. Der Kaloustian |
| Affiliation: | Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon;The National Unit of Human Genetics, American University of Beirut Medical Center, Beirut, Lebanon |
| Abstract: | A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal. The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12. |
| Keywords: | Arylsulphatase B Hexosaminidase B mental retardation multiple congenital malformations partial monosomy 5q |