RESUMEN
Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are predicted to occur with a frequency equal to the deletion. However, few microduplications of this region have been reported. We report the identification of 18 individuals with microduplications of 22q11.21-q11.23. The duplication boundaries for all individuals are within LCRs distal to the DiGeorge/velocardiofacial microdeletion region. Clinical records for nine subjects reveal shared characteristics, but also several examples of contradicting clinical features (e.g. macrocephaly versus microcephaly and upslanting versus downslanting palpebral fissures). Of 12 cases for whom parental DNA samples were available for testing, one is de novo and 11 inherited the microduplication from a parent, three of whom reportedly have learning problems or developmental delay. The variable phenotypes and preponderance of familial cases obfuscate the clinical relevance of the molecular data and emphasize the need for careful parental assessments and clinical correlations.
Asunto(s)
Síndrome de DiGeorge/genética , Anomalías Múltiples/genética , Niño , Deleción Cromosómica , Síndrome de DiGeorge/patología , Femenino , Duplicación de Gen , Humanos , Discapacidad Intelectual/genética , Masculino , Análisis de Secuencia por Matrices de OligonucleótidosRESUMEN
Freiberg disease is characterized as osteochondrosis of the second metatarsal head. It is the fourth most common form of primary osteochondrosis with a significant predilection to the adolescent athletic female population, although it has been seen over a wide age range. If treated early, osteochondroses such as Freiberg disease are essentially self-limiting, often resolving with nonoperative management. When surgery is warranted, it is imperative the patient's age, activity level, and degree of articular deformity be taken into account.