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Partial trisomy 14q due to familial t(14q-, 11q+) translocation

✍ Scribed by J. P. Fryns; M. Eygen; W. Tanghe; H. Berghe


Publisher
Springer
Year
1977
Tongue
English
Weight
281 KB
Volume
37
Category
Article
ISSN
0340-6717

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✦ Synopsis


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.


πŸ“œ SIMILAR VOLUMES


Partial trisomy 14q
✍ I. Lopez Pajares; A. Delicado; P. V. Cobos; G. Lledo; A. Peralta πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 234 KB

A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being

Partial trisomy 4q due to familial 2/4 t
✍ 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 2q and familial transloc
✍ 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.