RESUMO
Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of 1q. Characteristic manifestations include round face with prominent "cupid's bow" and downturned corners of the mouth, thin vermilion borders of lips, long upper lip with smooth philtrum, short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac, genital, and other anomalies, moderate to severe mental retardation, and growth retardation. The deletion includes 1q42 or 1q43----qter and was a de novo defect in nine of 15 cases.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/patologia , Cromossomos Humanos 1-3 , Aberrações Cromossômicas/genética , Deleção Cromossômica , Transtornos Cromossômicos , Humanos , Fenótipo , SíndromeRESUMO
Skin lesions known as "tattoos", were observed in several captive Atlantic bottlenosed dolphins (tursiops truncatus) maintained at the Naval Ocean Systems Center, San Diego, California. Biopsy of typical lesions and subsequent ultrastructural examination revealed intracytoplasmic particles with poxvirus morphology.
Assuntos
Golfinhos/microbiologia , Infecções por Poxviridae/veterinária , Poxviridae/isolamento & purificação , Animais , Cicatriz/microbiologia , Cicatriz/veterinária , Pele/lesões , Pele/microbiologia , Pele/ultraestruturaRESUMO
Skeletal lesions observed during necropsy of a wild mature male dolphin (Delphinus delphis) were consistent with fibrous osteodystrophy when examined microscopically. The lesions were pronounced in the ribs, scapulae, and pelvis, with no apparent skull or vertebral involvement. Whether the cause was nutritional or nonnutritional was not determined.
