Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include the variant Paris-Trousseau syndrome, a transient thrombocytopenia related to FLI1 hemizygous deletion. We investigated a boy with features of JBS using classic cytogenetic methods, FISH and high-resolution array CGH. The proband was found to have a mosaic ring chromosome 11 resulting in a hemizygous 11q terminal deletion of 8.6 Mb, leading to a copy number loss of 52 genes. The patient had a hemizygous deletion in the FLI1 gene region without apparent thrombocytopenia, and he developed diabetes mellitus type I, which has not previously been described in the spectrum of disorders associated with JBS. The relationship of some of the genes within the context of the phenotype caused by a partial deletion of 11q has provided insights concerning the developmental anomalies presented in this patient with atypical features of JBS.

Atuação da fisioterapia na síndrome de jacobsen / Physical therapy in jacobsen syndrome

Este estudo teve por objetivo descrever os achados clínicos e laboratoriais de uma criança com diagnostico de síndrome de Jacobsen e relatar o tratamento fisioterapêutico ao qual ela se submeteu. Foi participante do estudo uma criança de 2 anos e 3 meses de idade, do sexo feminino. Para obtenção dos dados, foram realizadas consultas aos prontuários da equipe multidisciplinar que atendia a criança e observações dos atendimentos fisioterapêuticos. As informações dos prontuários foram colhidas per meio de um roteiro previamente elaborado, e foram observados e relatados os atendimentos de fisioterapia. Esperou-se assim obter maior conhecimento acerca da síndrome, indicando outras possibilidades de intervenção voltadas para esses indivíduos.

Laboratory and clinical findings of a female child (two years and three months old) with Jacobsen Syndrome are described and physiotherapeutic approaches are reported. Data were obtained from registers kept by the multidisciplinary team involved with the child and from information on the phsysical therapy process, according to a protocol previously elaborated. A better comprehension of the syndrome is supposed to be very useful for other possibilities of intervention.

Monosomía 11 q compatible con síndrome de Jacobsen. Reporte de caso / 11 q monosomy compatible with Jacobson syndrome. Case report

Se reporta el caso de una niña de 13 días de vida, con una deleción distal del brazo largo del cromosoma 11, nacida de madre portadora de un cromosoma marcador y de una inversión pericéntrica de la heterocromatina del cromosoma 9, la cual también se hallaba presente en la propósita. El cariotipo de la niña resultó 46,XX, del(11)(q24 ­11qter), inv 9qh.La madre de la niña, con fenotipo normal, presentó un cariotipo 46,XX/47,XX+mar, inv9qh. El cariotipo del padre de la propósita fue normal. En este reporte destacamos la importancia de realizar el diagnóstico cromosómico en niños portadores de múltiples malformaciones y también la de efectuar el análisis cromosómico a los padres para el pronóstico del caso y asesoramiento genético de la pareja.

This is the case of a 13-day girl with a distal deletion of the long arm of chromosome 11 and a pericentric inversion of the heterochromatin of chromosome 9. Her mother also had a pericentric inversion of the heterochromatin of chromosome 9 and a chromosome marker. The cariotype of the affected girl was 46, XX, del (11) (q24 ­11qter), inv 9qh and the cariotype of the mother, with normal phenotype, was 46,XX,/47,XX+mar, inv 9qh. The mother of the proband had a normal phenotype. This paper highlights the importance of making an accurate chromosomal diagnosis in a child with multiple malformations as well as the importance of making a chromosomal analysis of the parents to make the case prognosis and proper genetic counselling.