Two cases of partial trisomy 10q in the same family caused by parental direct insertion [ins. (15;10) (q15;q24q26)].
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Biomedical subjects
E Back
Publications and source records attributed to E Back.
Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship.
A family is reported with a segregating t(5;10)(p15;p11) translocation resulting in a child carrying trisomy 10p. The clinical findings of the patient are compared with trisomy 10p and the Cri-du-Chat syndrome.
Abnormalities, Multiple↗
Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies.
A girl with congenital malformations and del 4(q31), identified by QFQ- and RFA- techniques, is described. The clinical findings are compared with the four cases of 4q- of the literature. Evident variability of the clinical features and the small number of cases of 4q- does not allow the delineation of a clinical syndrome.
Abnormalities, Multiple↗
Aetiology of acute diarrhoeal disease in infancy and childhood, during the peak season Addis Ababa 1977: a preliminary report.
Explore the source record for details and available documents.
Acute Disease↗
[Arrangement of human metaphase chromosomes. 3. The association pattern of acrocentric chromosomes in mothers of mongoloid children and in controls].
Explore the source record for details and available documents.
Adult↗
Quantitative studies on the arrangement of human metaphase chromosomes. II. Influence of the preparation technique on the association pattern of the acrocentric chromosomes.
Explore the source record for details and available documents.
Adult↗
Quantitative studies on the arrangement of human metaphase chromosomes. II. Influence of the preparation technique on the association pattern of the acrocentric chromosomes.
Explore the source record for details and available documents.
Adult↗
Quantitative studies on the arrangement of human metaphase chromosomes. I. Individual features in the association pattern of the acrocentric chromosomes of normal males and females.
Explore the source record for details and available documents.
Adult↗
Individual satellite-association patterns.
Explore the source record for details and available documents.
Chromosome Aberrations↗
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a distance of at least 12 cM distal to the critical DGS2 region. Interstitial and terminal deletions described are in the range of 10-50 cM and enable the tentative mapping of loci for ptosis and hearing loss, features which are not part of the DGS clinical spectrum.
Cell Line, Transformed↗