Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
| Autor: | Christian Wentzel, Eva-Lena Stattin, Michelle Steinraths, Irina Giurgea, Marie-France Portnoï, Sarina G. Kant, Corinne Metay, Sandra Chantot-Bastaraud, Claudia A. L. Ruivenkamp, Evica Rajcan-Separovic, Ann-Charlotte Thuresson, Antoinet C.J. Gijsbers, Sandrine Marlin, Göran Annerén, Capucine Hyon, Luc Druart, Joris Andrieux, Catherine Vincent-Delorme |
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| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty Adolescent DNA Copy Number Variations Developmental Disabilities Biology Contiguous gene syndrome Article 03 medical and health sciences Genetics medicine Humans In patient Child Gene Genetics (clinical) Oligonucleotide Array Sequence Analysis Sequence Deletion 030304 developmental biology 0303 health sciences Chromosomes Human Pair 10 030305 genetics & heredity Karyotype Syndrome medicine.disease Phenotype Child Preschool Medical genetics Female Bulbous nasal tip DNA microarray |
| Zdroj: | European Journal of Human Genetics. 19:959-964 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/ejhg.2011.71 |
| Popis: | With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene, known to be associated with microtubule function and to have a role in cell division. Another patient has previously been described with a 10 Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations. Taken together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage-sensitive genes that predispose to developmental delay. |
| Databáze: | OpenAIRE |
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