Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2014
Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Fernández-Jaén Alberto, Fernández-Perrone Ana Laura, Fernández-Mayoralas Daniel Martín, Calleja-Pérez Beatriz, Sánchez-Hombre María Del Carmen, Fernández Ester Corbacho, López-Martín Sara
Аннотация
CASE REPORT: We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important role in CS.
CONCLUSIONS: Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomic hybridization (array CGH) should be considered as a first-line test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.
CONCLUSIONS: Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomic hybridization (array CGH) should be considered as a first-line test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.
Предметные рубрики MeSH
Abnormalities, MultipleChildChromosome DeletionChromosomes, Human, Pair 4Craniofacial AbnormalitiesCraniosynostosesFaciesFetal Growth RetardationFibroblast Growth Factor 2Genetic Association StudiesGenetic CounselingGenetic Predisposition to DiseaseGenotypeHumansIntellectual DisabilityMaleMembrane ProteinsMuscular AtrophyPhosphoproteinsProteinsPsychomotor Disorders