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Partial trisomy 2q and familial translocation t(2;12)(q31;q24)

✍ Scribed by Bernhard Zabel; Susanne Hansen; Wolfram Hartmann

Publisher
Springer
Year
1976
Tongue
English
Weight
602 KB
Volume
32
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES

Partial trisomy 2q and familial transloc
Partial trisomy 2q and familial translocation t(2;18)(q31;p11)
✍ L. Wisniewski; R. Chan; J. V. Higgins πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 329 KB

This report describes a malformed infant with distal 2q trisomy/distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.

Partial trisomy 14q due to familial t(14
Partial trisomy 14q due to familial t(14q-, 11q+) translocation
✍ J. P. Fryns; M. Eygen; W. Tanghe; H. Berghe πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 281 KB

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.

Partial trisomy 4q due to familial 2/4 t
Partial trisomy 4q due to familial 2/4 translocation
✍ B. Biederman; P. Bowen πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 953 KB

The case of a 5-year-old boy with partial trisomy for the long arm of chromosome No. 4 is described. The pattern of abnormal development in this and in 12 previously reported cases is similar, but the phenotype is not as characteristic as that associated with some other types of chromosomal imbalanc

Partial trisomy 4q: Two cases with a fam
Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23)
✍ Mario Stella; Aldo Bonfante; Gianfranco Ronconi; Giovanni Rossi πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 353 KB

Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27 to qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five