Partial trisomy 12q associated with a familial translocation
โ 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
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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.
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
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.
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