1.
Arch Pediatr
; 11(8): 972-3, 2004 Aug.
Article
in French
| MEDLINE
| ID: mdl-15288092
Subject(s)
Mucocutaneous Lymph Node Syndrome/microbiology , Mycoplasma pneumoniae , Pneumonia, Mycoplasma/complications , Antibodies, Bacterial/blood , Child , Cough/microbiology , DNA, Bacterial/analysis , DNA, Bacterial/genetics , Diagnosis, Differential , Fever/microbiology , Humans , Immunoglobulin M/blood , Immunoglobulins, Intravenous/therapeutic use , Male , Mucocutaneous Lymph Node Syndrome/diagnosis , Mucocutaneous Lymph Node Syndrome/therapy , Mycoplasma pneumoniae/genetics , Mycoplasma pneumoniae/immunology , Pneumonia, Mycoplasma/blood , Pneumonia, Mycoplasma/diagnosis , Pneumonia, Mycoplasma/immunology , Polymerase Chain Reaction
2.
Am J Med Genet
; 40(3): 370-3, 1991 Sep 01.
Article
in English
| MEDLINE
| ID: mdl-1951445
ABSTRACT
Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30-month-old boy with mental retardation and minor anomalies. This CCR consists in a 3-way reciprocal translocation (2;3;16) and an insertion (6;7), as it was analyzed by different banding and high resolution techniques. It involves 6 breakpoints: 2q11, 13q12, 16p11, 6p21.3, 7q21.3 and 7q35.
Subject(s)
Abnormalities, Multiple/genetics , Intellectual Disability/genetics , Translocation, Genetic , Child, Preschool , Chromosome Banding , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 16 , Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 6 , Chromosomes, Human, Pair 7 , Humans , Karyotyping , Male , Translocation, Genetic/genetics
3.
Hum Genet
; 51(3): 335-8, 1979 Oct 02.
Article
in English
| MEDLINE
| ID: mdl-511166
ABSTRACT
Partial trisomy 15 was observed in a newborn with malformations of the head and extremities. A t(5;15) translocation was found in the mother and maternal grandfather.