Reciprocal translocation t(1;15)(p36.2;p11.2): Confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p)
✍ Scribed by Barbi, Gotthold ;Kennerknecht, Ingo ;Klett, Christine
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 411 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
A newborn girl with generalized muscular hypotonia and minor anomalies was referred for chromosome analysis. Cytogenetic investigation showed a satellite and an Agpositive NOR on the distal short arm of one chromosome 1, thus indicating an unbalanced translocation involving the short arm of an acrocentric chromosome. The phenotypically normal mother had the same satellited chromosome 1 with Agpositive NOR. One chromosome 15 was the only acrocentric chromosome in her karyotype lacking recognizable satellites and an Agpositive NOR. Thus a balanced reciprocal translocation between the short arms of chromosomes 1 and 15 in the mother was suggested. The cytogenetic diag nosis was confirmed by nonradioactive in situ hybridization with the most distal DNA probe on chromosome 1, the probe pl-79, localized at chromosome band 1~36.3. The probe was biotinylated by nick-translation, and detection was done by FITC labelled avidin binding. Hybridization signals were observed on both the mother's normal chromosome 1 and the derivative chromosome 15 but not on her derivative chromosome 1. Consequently, the index patient has an unbalanced karyotype with monosomy (11336.3). Comparing their clinical reports shows that patients with similar terminal deletions of l p share several manifestations.