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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Martinet, Danielle Filges, Isabel Besuchet Schmutz, Nathalie Morris, Michael A. Gaide, Anne-Claude Dahoun, Sophie Bottani, Armand Addor, Marie-Claude Antonarakis, Stylianos E. Beckmann, Jacques S. Béna, Frédérique |
| Description | Country affiliation: Switzerland Author Affiliation: Martinet D ( Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. danielle.martinet@chuv.ch) |
| Abstract | We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a 5-year-old male born with normal growth parameters and unilateral hip dysplasia; he has a characteristic facial phenotype, bilateral embryotoxon, and moderate mental retardation. Further characterization of the deletion, using high-resolution array comparative genomic hybridization (array-CGH; Agilent Human Genome kit 244 K), revealed that Patient 1 has a 8.1 Mb 6pter-6p24.3 deletion associated with a contiguous 5.8 Mb 6p24.3-6p24.1 duplication and Patient 2 a 5.7 Mb 6pter-6p25.1 deletion partially overlapping with that of Patient 1. Complementary FISH and array analysis showed that the inv del dup(6) in Patient 1 originated de novo. Our results demonstrate that simple rearrangements are often more complex than defined by standard techniques. We also discuss genotype-phenotype correlations including previously reported cases of deletion 6p. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 16 |
| Volume Number | 146A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-08-15 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Chromosome Deletion Chromosomes, Human, Pair 6 Craniofacial Abnormalities Developmental Disabilities Intellectual Disability Child, Preschool Chromosome Inversion Female Genotype Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Oligonucleotide Array Sequence Analysis Phenotype Case Reports Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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