Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11

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 includ...

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Autores principales:	Muñoz C,Sebastián, Garay G,Francisco, Flores C,Ingrid, Heusser R,Felipe, Talesnik G,Eduardo, Aracena A,Mariana, Mellado S,Cecilia, Méndez R,Cecilia, Arnaiz G,Pilar, Repetto L,Gabriela
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2001
Materias:	Ahnormalities Chromosome abnormalities Chromosome deletion DiGeorge syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000500007
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spelling	oai:scielo:S0034-988720010005000072005-11-24Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11Muñoz C,SebastiánGaray G,FranciscoFlores C,IngridHeusser R,FelipeTalesnik G,EduardoAracena A,MarianaMellado S,CeciliaMéndez R,CeciliaArnaiz G,PilarRepetto L,Gabriela Ahnormalities Chromosome abnormalities Chromosome deletion DiGeorge syndrome 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 and methods: 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 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications. (Rev Méd Chile 2001; 129: 515-21)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.129 n.5 20012001-05-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000500007es10.4067/S0034-98872001000500007
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Ahnormalities Chromosome abnormalities Chromosome deletion DiGeorge syndrome
spellingShingle	Ahnormalities Chromosome abnormalities Chromosome deletion DiGeorge syndrome Muñoz C,Sebastián Garay G,Francisco Flores C,Ingrid Heusser R,Felipe Talesnik G,Eduardo Aracena A,Mariana Mellado S,Cecilia Méndez R,Cecilia Arnaiz G,Pilar Repetto L,Gabriela Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
description	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 and methods: 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 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications. (Rev Méd Chile 2001; 129: 515-21)
author	Muñoz C,Sebastián Garay G,Francisco Flores C,Ingrid Heusser R,Felipe Talesnik G,Eduardo Aracena A,Mariana Mellado S,Cecilia Méndez R,Cecilia Arnaiz G,Pilar Repetto L,Gabriela
author_facet	Muñoz C,Sebastián Garay G,Francisco Flores C,Ingrid Heusser R,Felipe Talesnik G,Eduardo Aracena A,Mariana Mellado S,Cecilia Méndez R,Cecilia Arnaiz G,Pilar Repetto L,Gabriela
author_sort	Muñoz C,Sebastián
title	Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
title_short	Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
title_full	Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
title_fullStr	Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
title_full_unstemmed	Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
title_sort	heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
publisher	Sociedad Médica de Santiago
publishDate	2001
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000500007
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Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11

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