Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • 1980-1984  (1)
  • 1975-1979  (1)
  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Utilizing the 5-bromo-deoxyuridine (BrdU) incorporation technique, we have recently studied the DNA replication kinetics in a dicentric X chromosome, formed by long arm-to-long arm fusion at band q23, from a 16-year-old black female with primary amenorrhea. The patient has a karyotype 45,X/46,X,dic(X)(q23). In the buccal smear the presence of X chromatin was found in 33% of the cells examined. The Barr bodies are large and 21% of them are bipartite. DNA replication studies were performed on the patient's lymphocytes by the thymidine pulse (T-pulse) method and confirmed comparatively by the BrdU pulse (B-pulse) method. The results indicate that the dicentric X chromosome is always late-replicating. The replication pattern is symmetric on both sides of the breakpoint and the replication sequence is, in order, p11, p22, q1(1–3), q22, q23, p21, and q21. This finding is comparable to those of other investigators and supports the theory that there exist two inactivation centers in the dicentric X chromosome, located on or near the q21 band.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    ISSN: 1432-1076
    Keywords: Generalized chondrodysplasia ; Short-limb dwarfism ; Spondyloepimetaphyseal dysplasia ; Micrognathia ; Respiratory distress ; Dislocation of lenses ; Cleft palate ; Neonatal/early infancy-childhood death
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper describes 3 infants with a severe, generalized chondrodysplasia with short limbs, shortness of stature, relative micrognathia and neonatal respiratory distress in all cases, cleft palate in two and dislocation of lenses in one. They diet at 7 and 10 weeks and at 17 months respectively. No autopsy was performed on any of the 3 patients. Roentgenological manifestations include short, broad tubular bones with metaphyseal widening, bowing of leg, thigh and forearm bones, neonatal accelerated carpal bone maturation, short, broad pelvis with wide, flared iliac wings, many gross vertebral abnormalities including most prominently coronal clefts of almost any vertebral body, and short ribs with flared anterior ends. Roentgenographically the condition has some similarities with Kniest disease, or more correctly, the Kniest chondrodysplasia. However, we think that the clinical and roentgenological manifestations are sufficiently unique to permit delineation of the condition of our 3 patients as a “new” entity different from the Kniest chondrodysplasia. Similar cases have been described by Rolland et al. from France and by Dinno et al. from the U.S.A. The latter case and our 3 patients were sporadic cases, but the former had a probably affected sibling, suggesting that this disorder is an autosomal recessive trait.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...