RESUMO
We report on two sibs with facial anomalies and developmental delay. Partial trisomy 2q was detected only after parental chromosome studies showed the father to carry a balanced interchromosomal insertion of 2 (q24.3-q32.1) into 5q.
Assuntos
Anormalidades Múltiplas/genética , Inversão Cromossômica , Cromossomos Humanos Par 2/genética , Trissomia , Pré-Escolar , Orelha/anormalidades , Face/anormalidades , Feminino , Genitália/anormalidades , Transtornos do Crescimento/congênito , Humanos , Cariotipagem , Rim/anormalidades , Masculino , Nariz/anormalidadesRESUMO
We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 1 , Anormalidades Múltiplas/enzimologia , Criança , Fragilidade Cromossômica , Expressão Facial , Humanos , Deficiência Intelectual/genética , Instabilidade Articular/genética , MasculinoRESUMO
Of the infants with spina bifida referred to a neonatal surgical unit over three years and denied early closure of the myelocele, a significant proportion survived long enough for procedures to drain hydrocephalus to be needed. The key decision in the management of this condition is not whether myeloceles should be closed but whether hydrocephalus should be treated.
Assuntos
Meningomielocele/mortalidade , Disrafismo Espinal/mortalidade , Drenagem , Ética Médica , Feminino , Humanos , Hidrocefalia/terapia , Lactente , Recém-Nascido , Masculino , Meningomielocele/cirurgia , Prognóstico , Qualidade de Vida , Fatores de TempoRESUMO
A standardized oral fat load has been given to 66 children having duodenal or jejunal biopsy, and to 10 children presumed normal. The rise in plasma light scattering intensity (LSI) measured by nephelometry between the fasting and 2-hour postload level (0-2 hour) showed good correlation with the small intestinal morphology in patients suspected of having coeliac disease. In those who had had recurrent diarrhoea and gastroenteritis, the fat load test did not predict small intestinal morphology. Serial studies in 5 treated patients with malabsorption showed increase in the 0-to 2-hour LSI, with corresponding improvement of small intestinal morphology and clinical state.
