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
in Spanish
| LILACS
| ID: lil-295253
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
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Chromosomes, Human, Pair 22
/
Chromosome Aberrations
/
Chromosome Deletion
Type of study:
Diagnostic study
/
Etiology study
/
Screening study
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2001
Type:
Article
/
Project document
Affiliation country:
Chile
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