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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Basinko, Audrey Douet-Guilbert, Nathalie Parent, Philippe Blondin, Gilles Mingam, M. Monot, Françoise Morel, Frédéric Le Bris, Marie-Josée De Braekeleer, Marc |
| Description | Country affiliation: France Author Affiliation: Basinko A ( Service de Cytogénétique, Cytologie et Biologie de Reproduction, CHU Morvan, Brest, France.) |
| Abstract | This 15-month boy was expressed at the cytogenetic laboratory because of psychomotor development delay. He was tall and had plagiocephaly, micrognathia, high nasal bridge, anteverted nostrils and pectus excavatum. A 46,XY,del(4)(p16.1p16.3) karyotype was found using high-resolution R-banding technique. FISH studies using the LSI Wolf-Hirschhorn dual color 4p16.3 and the TelVysion 4p probes showed no deletion. Using BACs, the distal breakpoint was located in 4p16.3, between RP11-165K4 and RP11-717M10 and the proximal breakpoint in 4p15.33, between RP11-74M11 and RP11-1J7; therefore, approximately 7.96 Mb of the short arm were deleted. The maternal karyotype showed the same deletion, but in a mosaic status. Two distinct phenotypes have been recognized on the basis of the chromosomal bands involved in 4p deletion: the Wolf-Hirschhorn syndrome (WHS) and a proximal 4p deletion syndrome (4p15.2-p15.32). Our observation confirms that the basic WHS phenotype maps distally to this region. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 7 |
| Volume Number | 146A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-04-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 4 Chromosomes, Artificial, Bacterial Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Case Reports Journal Article |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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