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Partial trisomy 2q and familial translocation t(2;18)(q31;p11)

✍ Scribed by L. Wisniewski; R. Chan; J. V. Higgins

Publisher
Springer
Year
1978
Tongue
English
Weight
329 KB
Volume
45
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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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.

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Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogene

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