Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22 región q11 / Clinical heterogenity of the chromosome 22q11 microdeletion syndrome
Rev. méd. Chile
; 129(5): 515-21, mayo 2001. ilus, tab
Article
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| ID: lil-295253
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RESUMO
Background:
DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate.Aim:
To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients andmethods:
Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe.Results:
Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality.Conclusions:
The high frequency of the 22q11 microdeletion syndrome, estimated at 15.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications
Texto completo:
1
Índice:
LILACS
Asunto principal:
Cromosomas Humanos Par 22
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Aberraciones Cromosómicas
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Deleción Cromosómica
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Screening_studies
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
Es
Revista:
Rev. méd. Chile
Asunto de la revista:
MEDICINA
Año:
2001
Tipo del documento:
Article
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Project document