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1.
Genet Couns ; 18(3): 289-93, 2007.
Article in English | MEDLINE | ID: mdl-18019369

ABSTRACT

A de novo complex chromosome rearrangement (CCR) found in a phenotypically abnormal boy was characterized by G-bands, FISH with subtelomere probes, and M-FISH. The G-banding analysis revealed involvement of chromosomes 1, 2, 3, 15, and 18 with (at least) eight breakpoints, five nonreciprocal translocations (1q --> 2q --> 8q --> 15q --> 2p --> 1q), and a 3p insertion into the der(2); there was also a presumptive deletion of 1q41. The 5 derivatives were described as follows: der(1)(1pter --> 1q32.3?::2p21--> 2pter),der(2)(1qter --> 1q42?::2q24.2 --> 2p21::3p13 --> 3p26::15q15 --> 15qter),der(3)(3qter --> 3p13:),der(15)(15pter --> 15q15::18q11 --> 18qter),der(18)(18pter --> 18q11::2q24.2 --> 2qter). The molecular assays confirmed the segmental composition of each derivative and documented the localization of most relevant telomeres. In addition to the novelty of the 1, 2, 3, 15 and 18 combination, this CCR may also be unique in the sense that it represents a cluster of 6 nonreciprocal transpositions regardless of the occurrence (or lack thereof) of secondary unbalances. Finally, there appears to be an excess of CCRs in fetuses conceived by intracytoplasmic sperm injection.


Subject(s)
Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 18 , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 3 , Gene Rearrangement , Translocation, Genetic , Chromosome Banding , Humans , Karyotyping , Lymphocytes/cytology , Lymphocytes/pathology , Male , Metaphase
3.
J Pediatr ; 109(1): 123-30, 1986 Jul.
Article in English | MEDLINE | ID: mdl-3522832

ABSTRACT

In a multicenter randomized trial, 107 children with bacterial meningitis were initially given either cefuroxime or ampicillin plus chloramphenicol. Patients were alternately assigned to 7- or 10-day courses of the designated antimicrobial regimen. CSF isolates included Haemophilus influenzae type b (89, of which 25% were beta-lactamase positive), Streptococcus pneumoniae, and Neisseria meningitidis. Although mean CSF bactericidal titers against Haemophilus isolates were 1:6 in each treatment group, H. influenzae was cultured from CSF in four of 39 patients receiving cefuroxime, 24 to 48 hours after initiation of therapy, compared with none of 40 patients given ampicillin plus chloramphenicol (P = 0.11). Clinical cure rates were similar (95%); one death occurred in each group. One child given cefuroxime had persistent meningitis after 5 days of therapy, and mastoiditis with secondary bacteremia developed in one on day 10. Three patients had relapse or reinfection. One patient who received cefuroxime for 10 days had a relapse of epiglottitis 17 days later, and of the patients given ampicillin plus chloramphenicol, one had a relapse of meningitis 1 week after 7 days of therapy, and bacteremia developed in one 42 days after completion of 10 days of therapy. No increase in either in-hospital complications or relapses occurred with a 7-day treatment course. Proof of the equivalence of the antibiotic regimens and the efficacy of 7-day courses of treatment, as well as the consequences of delayed CSF sterilization, will require additional investigation.


Subject(s)
Ampicillin/administration & dosage , Bacterial Infections/drug therapy , Cefuroxime/therapeutic use , Cephalosporins/therapeutic use , Chloramphenicol/administration & dosage , Meningitis/drug therapy , Adolescent , Ampicillin/therapeutic use , Bacterial Infections/complications , Bacterial Infections/diagnosis , Child , Child, Preschool , Chloramphenicol/therapeutic use , Clinical Trials as Topic , Drug Therapy, Combination , Female , Humans , Infant , Male , Meningitis/complications , Meningitis/diagnosis , Meningitis, Haemophilus/drug therapy , Meningitis, Meningococcal/drug therapy , Meningitis, Pneumococcal/drug therapy , Random Allocation
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