Publication
A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems
| dc.contributor.author | Antunes, Henedina | |
| dc.contributor.author | Gonçalves, Jean-Pierre | |
| dc.contributor.author | Esmeralda, Silva | |
| dc.contributor.author | Oliva Teles, Natália | |
| dc.date.accessioned | 2012-07-11T12:07:07Z | |
| dc.date.available | 2012-07-11T12:07:07Z | |
| dc.date.issued | 2012-06 | |
| dc.description.abstract | The phenotype and severity of symptoms associated with deletions on chromosome 7 are directly proportional to the size of the deleted segment. Distal and interstitial deletions have been described in 40 cases. In this report the authors aim to report a child with a novel de novo interstitial deletion on chromosome 7, with the following karyotype: 46,XX,del(7)(p14.2 p15.1). We described a female, born at 38weeks with intrauterine growth restriction and feeding problems with episodes of cyanosis after feedings and failure to thrive. Physical examination showed low implantation of ears, hypertelorism, oblique palpebral fissures, retrognathia, and palate ogived, with insertion anomalies of the toes, poor facial expression and mild axial hypotonia. Transfontanelar ultrasound, magnetic resonance imaging, bronchofibroscopy and metabolic studies were normal. She was hospitalized until the 32nd day of life. She started speech therapy and presented improvements in swallowing. The percutaneous endoscopic gastrostomy was removed at 36months. She had recurrent urinary tract infection with normal dimercaptosuccinic acid but with a vesicoureteral reflux (grade III). Imagiological studies revealed a bilateral osteonecrosis of femoral epiphysis (Legg-Calvé-Perthes disease). Currently (6years-old), she is being normally fed (body mass index=15.8kg/m(2)). Her weight is 16.4kg (3rd centile) and length is 105cm (3rd to 5th centiles). She has a mild delay of psychomotor development impairment and some speech problems. This is the first case report of a patient with this de novo small interstitial deletion on chromosome 7. This rare chromosomal abnormality was associated with severe feeding problems in the first years of life. | por |
| dc.identifier.citation | Gene. 2012 Jul 15;503(1):152-4. Epub 2012 Apr 29 | por |
| dc.identifier.issn | 0378-1119 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/922 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S0378111912004726 | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Phenotype | por |
| dc.subject | Intersatitial | por |
| dc.subject | Karyotype | por |
| dc.title | A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 154 | por |
| oaire.citation.startPage | 152 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |