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Partial trisomy 12q associated with a familial translocation

โœ Scribed by Lorraine Hemming; Richard Brown


Book ID
119838814
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
545 KB
Volume
16
Category
Article
ISSN
0009-9163

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Partial 9q trisomy associated with a 9,2
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A new case of partial trisomy 9q was found in a child presenting two de novo aberrations: a deletion of the long arms of 9 and a 9,21 translocation. A tentative cytogenetic explanation is put forward.

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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

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โœ J. P. Fryns; M. Eygen; W. Tanghe; H. Berghe ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 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: Two cases with a fam
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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