Interstitial deletion of a proximal 3p: A clinically recognisable syndrome
| Autor: | Adriana Lo Castro, Anna Maria Nardone, Ambrogio Di Paolo, C. Lalli, Paolo Curatolo, Cinzia Galasso |
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| Rok vydání: | 2007 |
| Předmět: |
Polyhydramnios
Pathology medicine.medical_specialty Broad nasal bridge Facial Bones Broad forehead Cytogenetics Developmental Neuroscience Pregnancy Bradycardia medicine Humans Language Development Disorders Deletion syndrome Low-set ears Settore MED/38 - Pediatria Generale e Specialistica Genetics Fetal Growth Retardation Movement Disorders business.industry Long philtrum Electroencephalography Syndrome General Medicine medicine.disease Magnetic Resonance Imaging Settore MED/39 - Neuropsichiatria Infantile Phenotype Chromosome 3 Child Preschool Face Pediatrics Perinatology and Child Health Speech delay Female Chromosomes Human Pair 3 Neurology (clinical) Chromosome Deletion medicine.symptom Plagiocephaly business |
| Zdroj: | Brain and Development. 29:312-316 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/j.braindev.2006.09.014 |
| Popis: | Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies, plagiocephaly, broad forehead, broad nasal bridge, long philtrum and low set ears) and psychomotor/speech delay associated with an interstitial deletion of 3p12 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome. |
| Databáze: | OpenAIRE |
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