[De novo interstitial deletion of the long arm of chromosome 2: 46,XXX,del(2)(q14q21), associated with premature craniosynostosis].
A female newborn with premature cranial synostosis and facial dysmorphism including bulging forehead, hypertelorism, downward slanting palpebral fissures, low set ears and a short nose with broad flattened nasal bridge, was shown to have the karyotype 46,XX,del(2)(q14q21). We suggest that the appearance of isolated or associated premature fusion of cranial sutures is related to a structural alteration of the long arm of chromosome 2.
D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D011859:Radiography
Délétion interstitielle, de novo, du bras long d'un chromosome 2: 46,XX,del(2)(q14q21), associée à une craniosynostose prématurée.