The authors report a relatively rare case of dolichomegaureter followed up over a period of almost 8 years and which regressed spontaneously and almost completely. They envisage the various pathogenic hypotheses. The interest of this particular case lies on the one hand in the photographic documentation and secondly because of the regression of the dolichomegaureter slowly over the years, long after the disappearance of urinary infection and all treatment had been stopped. This course tended to confirm that the hypothesis of infectious megaureter due to a reversible acute inflammatory obstruction is not the sole explanation for the regression of certain large ureters in the infant.
Ureter/abnormalities , Follow-Up Studies , Humans , Infant , Male , Radiography , Remission, Spontaneous , Ultrasonography , Ureter/diagnostic imaging , Urinary Tract Infections/etiology
An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.
Sex Chromosome Aberrations/diagnosis , Child, Preschool , Female , Heterochromatin , Humans , Karyotyping , Turner Syndrome/diagnosis , X Chromosome
A deficient erythrocyte pyruvate kinase observed in a patient with congenital non-spherocytic anaemia was characterized by the following properties: very low activity in haemolysates, decreased thermal stability, slightly increased urea denaturation, high affinity for PEP, poor FDP activation, normal ATP inhibition, decreased affinity for ADP, normal pH of optimal activity, and presence of an abnormal slow-moving component in this layer polyacrylamide gel electrophoresis. The patient was probably double heterozygous for two different deficient mutants of erythrocyte pyruvate kinase.
Anemia, Hemolytic, Congenital/enzymology , Pyruvate Kinase/deficiency , Adenosine Diphosphate/blood , Child , Electrophoresis, Polyacrylamide Gel , Fibrin Fibrinogen Degradation Products/metabolism , Hemolysis , Humans , Hydrogen-Ion Concentration , Male , Temperature , Urea/metabolism
Abnormalities, Drug-Induced , Alcoholism , Fetal Diseases/chemically induced , Pregnancy Complications , Abnormalities, Multiple/chemically induced , Adolescent , Child , Child, Preschool , Cleft Palate/chemically induced , Eyelids/abnormalities , Female , Humans , Hypospadias/chemically induced , Infant , Infant, Newborn , Intellectual Disability/chemically induced , Microcephaly/chemically induced , Pregnancy , Retrognathia/chemically induced , Strabismus/chemically induced
We describe a case of (2) (q34;q36) deletion in a girl. The main clinical features of the proband are staturo-ponderal retardation, skull-face dysmorphia and an interauricular communication. The relationship between morphological and chromosomal abnormalities is discussed.
Chromosome Aberrations/genetics , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, 1-3 , Chromosomes, Human, 6-12 and X , Child , Female , Growth Disorders/genetics , Heart Septal Defects, Atrial/genetics , Humans , Karyotyping , Microcephaly/genetics
Upon investigating the mental retardment of a small girl who was not dysmorphic, a ring chromosome D was discovered. Thermic moderate denaturation enabled us to confirm it as being an r(15). The r(15) syndrome scarcely affects the phenotype. On the other hand, height is consistently reduced.
Chromosome Aberrations , Chromosomes, Human, 13-15 , Child, Preschool , Cytogenetics , Female , Growth Disorders/genetics , Humans , Karyotyping , Staining and Labeling
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, 13-15 , Adult , Autoradiography , Blood Group Antigens , Child, Preschool , Clinical Enzyme Tests , Dermatoglyphics , Female , Humans , Infant , Infant, Newborn , Intellectual Disability , Karyotyping , Male , Microcephaly , Phenotype
