ABSTRACT
A baby with stigmata of Down's syndrome was found to be a mosaic with two different cell lines: 45,XX,der(14q;21q)/46,XX,der(21q;21q)+21. The chromosome rearrangements appeared to have risen de novo. Four mechanisms are discussed for the origin of the mosaicism: dissociation of a translocation (14q;21q) chromosome already present in the 45,XX, der(14q;21q) zygote; two translocation events occurring sequentially at the first and second zygote (46,XX) divisions; a chromatid translocation in a 47,XX,+21 zygote; and an independent origin of the two cell lines.
Subject(s)
Chromosomes, Human, Pair 14/genetics , Chromosomes, Human, Pair 21/genetics , Down Syndrome/genetics , Mosaicism/genetics , Translocation, Genetic/genetics , Female , Humans , Infant, Newborn , KaryotypingABSTRACT
The onset of production of spermatozoa (spermarche) indicates the beginning of reproductive capacity in men. With the purpose to establish the age of initiation of spermaturia, we performed a transversal study in 669 Mexican boys aged 9-16 years old, searching for the presence of spermatozoa in the first urine sample during five consecutive days. Besides, physical examination, including Tanner stages for genitalia and pubic hair was practiced. Spermarche (E+) occurred when the median age was 13.4 +/- 1.01 yr, the median height 155.2 +/- 8.9 cm, and the Tanner stage G2P1. The boys in Tanner stage G2P1 and E+ showed important differences in the following parameters, when they were compared with the boys in Tanner stage G2P1 and E-: height, weight, corporal surface and muscular area of the arm. The findings could be explained by the relationship between structure and function when the cellular lineages are established during different phases of development.
Subject(s)
Body Height , Sexual Maturation/physiology , Spermatozoa , Urine/cytology , Adolescent , Age Factors , Child , Cross-Sectional Studies , Humans , Male , MexicoABSTRACT
In order to estimate the frequency of G6PD deficiency in the icteric population of the Monterrey metropolitan área (MMA), in the state of Nuevo León, there were studied 829 newborn males were studied. It was found that 13 subjects were deficient of this enzyme, that is equivalent to a frequency of 1.57% and when this frequency was compared with the one that was found an a previous study in a random sample of newborn males (0.66%) no statistical difference was observed, but it was estimated that the icteric newborn males have a relative risk of 2.34 times higher than the population in general to be a G6PD deficient, and this fact suggests the necessity to establish this screening test as a routine for all icteric newborn males, in order to have an opportune detection and an appropriate counselling.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/epidemiology , Jaundice, Neonatal/etiology , Adult , Blood Group Antigens , Female , Glucosephosphate Dehydrogenase/blood , Glucosephosphate Dehydrogenase/genetics , Glucosephosphate Dehydrogenase Deficiency/classification , Glucosephosphate Dehydrogenase Deficiency/complications , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glucosephosphate Dehydrogenase Deficiency/genetics , Humans , Incidence , Infant, Newborn , Male , Mexico/epidemiology , RiskSubject(s)
Sex Characteristics , Adolescent , Age Factors , Body Height , Child , Humans , Male , Mexico , Reference Values , Sexual MaturationABSTRACT
Se describe una familia en la que el sujeto de estudio del sexo masculino presento pubertad precoz verdadera (PPV) y neurofibromatosis, y la madre y un hermano menor solo neurofibromatosis. Se discute la importancia de llegar a establecer la etiologia de la PPV y la necesidad de un estudio integral de la familia a fin de poder ofrecer un mejor asesoramiento genetico
Subject(s)
Child , Adolescent , Humans , Male , Puberty, Precocious , Neurofibromatoses , NeurofibromaABSTRACT
Nine cases of epidermolysis bullosa of the newborn are reported. Three cases corresponded to the simple type; 4 were dystrophic and two belonged to the letal phase. Those of the letal variety died from septicemia, while simple and dystrophic varieties are under hospital control at the out-patient department.
