RESUMO
The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for â¼ 70% of CdLS cases. We describe a 16-year-old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome (sSMC) present in mosaic form. sSMC is composed of two duplicated segments encompassing 17 genes including SMC1A gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical CdLS craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.
Assuntos
Proteínas de Ciclo Celular/genética , Proteínas Cromossômicas não Histona/genética , Síndrome de Cornélia de Lange/genética , Deficiência Intelectual/genética , Adolescente , Cromossomos Humanos X , Síndrome de Cornélia de Lange/fisiopatologia , Genes Duplicados , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Fenótipo , CoesinasRESUMO
El síndrome de cri du chat, o monosomía 5p-, es una rara anomalía genética debida a la deleción de un segmento del brazo corto del cromosoma 5, que muestra una gran variabilidad fenotípica y citogenética. Su incidencia varía de 1/15.000 a 1/50.000 recién nacidos vivos, aunque es posible que su frecuencia sea mayor. Se comunica un nuevo caso neonatal con algunas de las características fenotípicas del síndrome, con una deleción en 5p15.2 por translocación materna, que precisó técnicas moleculares para su confirmación; asimismo, se revisan los aspectos clínicos y citogenéticos más interesantes de esta afección
Cri-du-chat syndrome, or monosomy 5p-, is an uncommon genetic anomaly, caused by the deletion of a segment of the short arm of chromosome 5, that exhibits a wide phenotypic and cytogenetic variability. The incidence ranges from 1/15,000 to 1/50,000 live-born infants, although the frequency may be higher. We report the case of a newborn infant with some of the phenotypic characteristics associated with the syndrome and a deletion in 5p15.2 due to a maternal translocation, which required confirmation by molecular techniques. We also review the more interesting clinical and cytogenetic aspects of this condition
Assuntos
Masculino , Recém-Nascido , Humanos , Síndrome de Cri-du-Chat/genética , Monossomia/genética , Fenótipo , Fácies , Análise Citogenética/métodosRESUMO
Presentamos el caso de una recién nacida, estudiada por un fenotipo peculiar con cariotipo normal. Se realizó un análisis genético de las regiones subteloméricas mediante la técnica MLPA( multiplex ligation-dependent probe amplification) y se confirmaron los hallazgos mediante hibridación in situ fluorescente(FISH). Se detectó un reordenamiento de estas regiones en los cromosomas 4 y 20 de manera que la paciente presentaba una deleción en 4p y una amplificación en 20p, responsable la primera de ellas del síndrome clínico de Wolf-Hirschhorn. En el estudio familiar se encontró un reordenamiento subtelomérico balanceado en el padre de la niña y en la hermana del padre, cuya hija resultó también estar afectada por dicho síndrome
We report the case of a girl who presented a peculiar phenotype at birth, with a normal karyotype. Genetic analysis of the subtelomeric regions was performed using multiplex ligation-dependent probe amplification (MLPA) and the findings were confirmed by fluorescents in situ hybridisation (FISH). A rearrangement of these regions was detected in chromosomes 4 and 20, there being a 4p deletion, which is responsible for Wolf-Hirschhorn syndrome, and an amplification of 20p. In the family study, we found a balanced subtelomeric rearrangement in the girl´s father and in the father´s sister, whose daughter was also found to be affected by the syndrome
Assuntos
Feminino , Recém-Nascido , Humanos , Rearranjo Gênico/genética , Monossomia/genética , Aberrações Cromossômicas , Trissomia/genética , Amplificação de Genes/genética , Telômero/genética , Hibridização in Situ Fluorescente/métodosAssuntos
Anormalidades Múltiplas/genética , Poliploidia , Evolução Fatal , Humanos , Recém-Nascido , MasculinoRESUMO
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