Cromosomopatías por microdeleción: fenotipos principales / Chromosome disorders due to microdeletion: Principal phenotypes

Existen deleciones submicroscópicas que pueden afectar a un solo gen o a varios genes muy próximos. Por este motivo los cuadros clínicos a que dan lugarse denominan síndromes de microdeleción o de genes contiguos. Habitualmente son esporádicos, pero a veces pueden simular una herencia mendelina. Existe una serie de fenotipos clásicos bien conocidos aunque con el desarrollo de las técnicas de biología molecular, (sobre todo los estudios con microarrays) se están describiendo nuevos fenotipos reconocibles como síndromes (AU)

Submicroscopic deletions can affect one or several genes in a chromosome and the resulting abnormal phenotypes are called microdeletion or contiguous gene syndromes. They are usually sporadic, but some of them may simulate a mendelian pattern of inheritance. There are some well known phenotypes, but new phenotypes are being reported after the rutinary use of new molecular diagnosis techniques, specially the microarray studies (AU)

[Incidence and clinical characteristics of congenital heart disease in Badajoz Province, Spain]. / Incidencia de las cardiopatías congénitas en la provincia de Badajoz.

INTRODUCTION: There is no clear consensus as regards the exact incidence of congenital heart disease. The objective of this study was to determine the incidence of congenital heart defects in Badajoz province (Spain). MATERIAL AND METHODS: This is a retrospective study based on the clinical histories of 742 patients who were seen for the first time during 1997 in the paediatric cardiology unit of Badajoz Women and Children's Hospital. The incidence of congenital Heart defects is calculated by adding the number of patients assessed in 1997 and those who will be assessed in the future, considering the population born in 1997. The last figure is inferred from the number of patients who were born before 1997 and were assessed in that year, comparing the number of newborns between 1997 and previous years. The number of patients is divided by the total newborns in 1997 and multiplied by 1,000. RESULTS: Congenital heart defects were found in 15.6 % of the patients seen during 1997. The incidence ranges from 16.1 to 5.4 new cardiac diseases per 1,000 newborn babies per year if some minor congenital heart defects that are not considered in other publications are excluded, such as interatrial communication of the ostium secundum type, interventricular communication of the small muscle, mild prolapsed mitral valve, bicuspid aortic valve, patent ductus arteriosus in prematures infants, silent ductus arteriosus and congenital arrhythmias. CONCLUSIONS: The incidence of congenital heart defects in Badajoz province range from 16.1 to 5.5 new cardiac diseases per 1,000 newborn babies per year. We consider that the incidence in the Badajoz province is reliable and similar to other recent publications.

Incidencia de las cardiopatías congénitas en la provincia de Badajoz / Incidence and clinical characteristics of congenital heart disease in Badajoz province, Spain

Introducción: Las cardiopatías congénitas son una patología sobre las que aún no hay un consenso claro respecto a su incidencia. El objetivo de este trabajo ha sido determinar su incidencia en la provincia de Badajoz. Material y métodos: Se ha realizado un estudio retrospectivo sobre las historias clínicas de los 742 pacientes vistos por primera vez en la Unidad de Cardiología Pediátrica del Hospital Materno-Infantil de Badajoz durante 1997. La incidencia de las cardiopatías congénitas se calcula sumando a los cardiópatas nacidos en 1997 y que manifestaron la patología ese mismo año, los que la presentaron en los años sucesivos respecto del total de recién nacidos en 1997. Esta última cifra se estima a partir del número de cardiópatas que nacieron antes de 1997 y que debutaron en 1997, comparando el número de recién nacidos de cada uno de esos años anteriores respecto al número de recién nacidos de 1997. Este total de cardiópatas se divide entre los recién nacidos en 1997 y se multiplica por 1.000. Resultados: El 15,6 % de los pacientes visitados en 1997 tenía patología cardíaca congénita. La incidencia sin considerar algunas cardiopatías leves (que tampoco suelen ser consideradas en otras publicaciones, como comunicación interauricular tipo ostium secundum pequeña, comunicación interventricular muscular pequeña, prolapso de la válvula mitral leve, válvula aórtica bicúspide, conducto arterial del prematuro, conducto arterial silente o arritmias congénitas) osciló entre 16,1 y 5,4 cardiópatas por 1.000 recién nacidos vivos y año. Conclusiones: La incidencia de las cardiopatías congénitas en la provincia de Badajoz oscila entre 16,1 y 5,4 por 1.000 recién nacidos vivos. Esta cifra se considera fiable y semejante a otras publicaciones recientes (AU)

Introduction: There is no clear consensus as regards the exact incidence of congenital heart disease. The objective of this study was to determine the incidence of congenital heart defects in Badajoz province (Spain). Material and methods: This is a retrospective study based on the clinical histories of 742 patients who were seen for the first time during 1997 in the paediatric cardiology unit of Badajoz Women and Children's Hospital. The incidence of congenital Heart defects is calculated by adding the number of patients assessed in 1997 and those who will be assessed in the future, considering the population born in 1997. The last figure is inferred from the number of patients who were born before 1997 and were assessed in that year, comparing the number of newborns between 1997 and previous years. The number of patients is divided by the total newborns in 1997 and multiplied by 1,000. Results: Congenital heart defects were found in 15.6 % of the patients seen during 1997. The incidence ranges from 16.1 to 5.4 new cardiac diseases per 1,000 newborn babies per year if some minor congenital heart defects that are not considered in other publications are excluded, such as interatrial communication of the ostium secundum type, interventricular communication of the small muscle, mild prolapsed mitral valve, bicuspid aortic valve, patent ductus arteriosus in prematures infants, silent ductus arteriosus and congenital arrhythmias. Conclusions: The incidence of congenital heart defects in Badajoz province range from 16.1 to 5.5 new cardiac diseases per 1,000 newborn babies per year. We consider that the incidence in the Badajoz province is reliable and similar to other recent publications (AU)

Melanosis óculi / Ocular melanosis

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Diagnóstico del síndrome 9p- al nacimiento. Una nueva observación / Diagnosis of 9p- syndrome at birth. A new case

No disponible

[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case]. / Duplicación parcial de novo del segmento distal del brazo largo del cromosoma 5 (q31 --> qter).

We report a case of de novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). The patient showed dysmorphic features (flat face, short and horizontal palpebral fissures, depressed and broad nasal bridge, wide nose with hypoplastic alae nasae, short and flat philtrum, high arched palate, micrognathia, anomalies of the ears), redundant adipose panniculus of the neck, proximal shortening of the limbs, flexion contractures, long and distally widened fingers, bilateral clubfoot, single umbilical artery, hypoplasia of lung and pulmonary arteries, atrial septal defect and patent ductus arteriosus. She died 23 hours after birth from respiratory failure. Chromosome analysis with high resolution GTG bands showed 46,XX,1p1, which was interpreted as a partial duplication of the distal long arm of chromosome 5 (q31--> qter). Fluorescence in situ hybridization analyses with whole chromosome painting technique for chromosome 5 proved that this extra region belonged to chromosome 5. Our case is the first to have a de novo partial duplication of this chromosome segment.

Duplicación parcial de novo del segmento distal del brazo largo del cromosoma 5 (q31-->qter) / De novo partial duplication of the distal segmentt of the long arm of chromosome 5(q31-->qter). Report of a new case

Presentamos un caso de duplicación parcial de novo del segmento distal del brazo largo del cromosoma 5 (q31-->qter). La paciente presentaba rasgos dismórficos (facies plana, hendiduras palpebrales cortas y de disposición horizontal, raíz nasal deprimida y ancha, nariz ancha con alas nasales hipoplásicas, filtro corto y liso, paladar elevado, anomalías de pabellones auriculares), exceso de panículo adiposo en el cuello, acortamiento proximal de extremidades, contracturas en flexión, dedos largos con ensanchamiento distal, pie equinovaro bilateral, arteria umbilical única, hipoplasia del pulmón y de las arterias pulmonares, comunicación interauricular y conducto arterioso persistente. La paciente falleció a las 23 h de vida debido a una dificultad respiratoria progresiva. El estudio cromosómico con bandas GTG de alta resolución mostró un cariotipo 46,XX,1p , que fue interpretado como una duplicación parcial de la región distal del brazo largo del cromosoma 5 (q31-->qter). Los estudios de hibridación in situ con fluorescencia (FISH) con pintado cromosómico probaron que la región extra pertenecía al cromosoma 5. Nuestro caso es el primero en el que se observa una duplicación parcial de novo de este segmento cromosómico (AU)

Síndrome de Holt-Oram / Holt-Oram syndrome

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Trisomía 18q parcial derivada de translocación recíproca 4;18 materna / Partial trisomy 18q due to maternal reciprocal translocation 4;18

Se presenta un nuevo caso de trisomía 18q parcial derivada de translocación balanceada 4;18 materna. La niña era portadora de una trisomía parcial del brazo largo del cromosoma 18, asociada a una monosomía parcial de 4q distal. La niña mostraba un fenotipo con muchas de las principales características de la trisomía 18, entre otros: dismorfia facial, cardiopatía congénita, manos con dedos segundo y quinto situados sobre el tercero y cuarto con contracturas no reducibles y anomalías genitales. Creemos que el fenotipo de la trisomía 18 requiere una amplia región de 18q para su presentación y tiene una expresión más grave cuanto mayor es el fragmento trisómico. El consejo genético en las familias portadoras de translocaciones equilibradas es de gran importancia. Es necesario valorar el riesgo en cada caso particular, e informar sobre las posibilidades de diagnóstico prenatal existentes (AU)

Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized.

[Controlled clinical assay in Clonidine, arginine aspartate, alpha-ketoglutarate of Ornithine and Ciproheptadine as growth stimulants in children with short stature]. / Ensayo clínico controlado con Clonidina, aspartato de arginina, alfa-cetoglutarato de Ornitina y Ciproheptadina, como estimulantes del crecimiento en niños normales de talla corta.

Eighty-one healthy prepubertal children of short stature, between two and twelve years of age, were divided into four homogeneous groups. Each group was treated with a placebo for one year and for a second year with one of the following drugs (double blind): clonidine (CI), arginine asprate (AA), ornithine alphaketoglutare (OKG), or cyproheptadine (Cp). CI and OKG did not better the standard deviation of height. AA and Cp did, but to no greater extent than the placebo. The growth rate did not change in any group. The ratio of bone age/chronological age was significantly higher at the end of the OKG year than at the end of the year with placebo, a difference that was not found in any other group. The prognosis of adult height (TW2) did not change in any group. The standard deviation of weight increased in all groups, both with the placebo and the various drugs, without significant differences between the groups. The CI caused frequent clinical side effects, including a reversible increase in transaminases in one child. The Cp stimulated hunger. The AA and OKG did not produce side-effects and the placebo increased appetite in 11% of the children. Somatomedin C was significantly higher after one year with Cp than after one year with the placebo, significantly higher after the placebo than after CI and AA and there was no difference between the treatment with the placebo and OKG. Growth hormone values in a 24 hour urine sample were so scattered that we do not consider them helpful.(ABSTRACT TRUNCATED AT 250 WORDS)

[Diagnostic significance of systematic neonatal urinary echography. Therapeutic implications]. / Valor diagnostico de la ecografia urinaria sistematica neonatal. Implicaciones terapeuticas.

A total of 9,959 ultrasonography studies of the upper excretory urinary system during the first three days of life of all the children born in this centre were carried out over a period of three years. Sonographic abnormalities were found in 125 patients (1.26 per 100) consisting of: Prominent pelvis in 35, pyelic ectasia in 45, hydronephrosis in 16, ureterohydronephrosis in seven, renal agenesis in 14, multicystic kidney in two, renal ectopia en two, other anomalies in four. There had been prenatal sonographic diagnosis of the urinary tract abnormality in 24 patients, all with pyelic ectasia or hydronephrosis. The sonography of the patients with prominent pelvis normalized before three months of age. Intravenous urography was performed on most of the remaining 90 patients, confirming the diagnosis in the greater part, and serial voiding cystourethrography which detected vesicoureteric reflux in 21 of 77 patients. The definitive diagnosis was arrived at in all patients after carrying out the sonography and the uroradiological test. This made prophylactic antibiotic treatment possible in many of the cases and surgical correction of the anomaly in 30, performing pyeloureteroplasty in 11, neo-ureterocystostomy in 10, nephrectomy in five, heminephroureterectomy in three and derivation to the skin in one. Twenty of these patients were operated before three months of age. The number of uropathies operated at early ages at this centre has risen remarkably since introduction of systematic neonatal urinary sonography.