RESUMO
La microduplicación 3q29 (MIM 611936) es un raro síndrome caracterizado por retraso mental moderado, rasgos dismórficos craneofaciales y anomalías musculoesqueléticas. La región mínima crítica tiene un tamaño de aproximadamente 1,73Mb, está flanqueada por secuencias repetitivas y es similar en tamaño a la microdeleción recíproca 3q29, sugiriendo para ambas una recombinación homóloga no alélica (NAHR) entre las secuencias repetitivas como mecanismo de producción. Describimos una nueva familia con diferente expresividad clínica en la paciente y su madre (AU)
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity (AU)
Assuntos
Humanos , Feminino , Criança , Duplicação Cromossômica , Deficiência Intelectual/genética , Anormalidades Musculoesqueléticas/genética , Anormalidades Craniofaciais/genética , Sequências Repetitivas de Ácido Nucleico/genéticaRESUMO
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73 Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity.
Assuntos
Anormalidades Craniofaciais/genética , Duplicação Gênica , Deficiência Intelectual/genética , Anormalidades Musculoesqueléticas/genética , Criança , Feminino , Humanos , Lactente , Fenótipo , SíndromeRESUMO
Presentamos el caso de un niño con retraso psicomotor y rasgos dismórficos afectado de una microdeleción 15q11.2 de 1.5 Mb de origen paterno diagnosticada mediante array-based comparative genomic hybridization. La deleción está comprendida entre los puntos de rotura BP1-BP2 de la región crítica descrita para los síndromes Prader-Willi/Angelman. Comparamos las características clínicas de nuestro paciente con las halladas en los 10 casos de deleción puraBP1-BP2 descritos hasta la fecha (AU)
The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by a CGH. The deletionis located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2deletion published to date (AU)
Assuntos
Humanos , Masculino , Criança , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genética , Transtornos Psicomotores/terapia , Epilepsia/diagnóstico , Transtornos Dismórficos Corporais/complicações , Transtornos Dismórficos Corporais/diagnóstico , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/diagnóstico , Transtornos Psicomotores/complicações , Epilepsia/complicações , Epilepsia/etiologia , Transtornos Dismórficos Corporais/genéticaRESUMO
La cefalopolisindactilia de Greig es un síndrome autosómico dominante de baja prevalencia causado por mutaciones en el gen GLI3, localizado en 7p14.1 y caracterizado por la tríada clínica de polisindactilia, macrocefalia e hipertelorismo. En aproximadamente el 20% de los casos se detecta una deleción de tamaño variable. Si la deleción es grande y afecta a otros genes además de GLI3, puede aparecer un fenotipo más severo, aceptándose la denominación de cefalopolisindactilia de Greig-síndrome de genes contiguos para estos casos. Describimos el caso de una niña recién nacida con polisindactilia, hipertelorismo y microcefalia, que presenta una micro deleción en 7p14.1 de 1,5 Mb de origen paterno diagnosticada mediante array-CGH (AU)
Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytob and 7p14.1 and characterized by the clinical triad ofpolysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacentgenes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH (AU)
Assuntos
Humanos , Feminino , Recém-Nascido , Sindactilia/genética , Mutação INDEL/genética , Hipertelorismo/genética , Anormalidades Múltiplas/genética , Microcefalia/genética , Deficiência Intelectual/genéticaRESUMO
The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.
Assuntos
Aberrações Cromossômicas , Transtornos Psicomotores/genética , Pré-Escolar , Cromossomos Humanos Par 15 , Humanos , Deficiência Intelectual , Masculino , SíndromeRESUMO
Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacent genes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH.
