RESUMEN
We describe a family with translocation (8;13) (p21;q22), in which both unbalanced products of adjacent-1 segregation occurred. Two members of the family have partial trisomy 8p with partial monosomy 13q; two others have partial monosomy 8p with partial trisomy 13q. The latter are both phenotypically normal, which is a highly unusual observation. One of these is, in addition, a carrier of a de novo balanced translocation between chromosomes 2 and 19. The risk for unbalanced progeny is discussed.
Asunto(s)
Cromosomas Humanos 13-15 , Cromosomas Humanos 6-12 y X , Discapacidad Intelectual/genética , Translocación Genética , Adolescente , Adulto , Niño , Bandeo Cromosómico , Deleción Cromosómica , Femenino , Heterocigoto , Humanos , Cariotipificación , Masculino , Linaje , Fenotipo , Examen Físico , TrisomíaAsunto(s)
Infecciones Urinarias/diagnóstico , Bacteriuria/diagnóstico , Niño , Preescolar , Humanos , Lactante , Orina/análisis , Orina/microbiologíaRESUMEN
A family is presented in which Hb Lepore Boston was found in six individuals over three generations. The gene must have had its origin either in Java (Indonesia) or in what is now the Federal Republic of Germany. The haemoglobin was characterized by amino-acid analysis of the six tryptic peptides that have a different composition in the beta- and the delta-chain. The ratio of glycine to alanine in position 136 of the fetal haemoglobin, which was somewhat raised in the Hb Lepore carriers, averaged 31:39. In addition an elliptocytosis gene was found, which was inherited independently from Hb Lepore; the simultaneous presence of elliptocytosis in three family members did not seem to aggravate the mild anaemia caused by Hb Lepore.