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Familial Robertsonian translocation t13q/15q

✍ Scribed by Elke Seidel; T. Grimm


Publisher
Springer
Year
1983
Tongue
English
Weight
19 KB
Volume
63
Category
Article
ISSN
0340-6717

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A family is described with a translocation t(10;21)(q22;q22) transmitted through three generations. This family was studied for the apparition of several miscarriages and two sisters with multiple malformations. Both children had a probably partial trisomy of chromosome 10 and a monosomy of chromoso

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Instances of balanced Robertsonian translocations between the homologues of chromosome 21 were observed in two couples with a history of repeated abortions. The male partner of one couple and the female partner of another couple exhibited this anomaly. The translocation (21q21q) was found to be tran

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A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15qllq13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms o

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A malformed male newborn with partial trisomy for the distal part of the long arm chromosome 14 (14q23 leads to 14 qter) is described. This anomaly arose as a segregation product of a balanced t(14q-,11q+), translocation in the father.