A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15qllq13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms o
โฆ LIBER โฆ
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations
โ Scribed by Berend, Sue Ann ;Bejjani, Bassem A. ;McCaskill, Christopher ;Shaffer, Lisa G.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 52 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0148-7299
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Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from only one parent. The bases are always two events, either two meiotic, or one meiotic and one mitotic, or two mitotic. An aberrant imprint, homozygosity of autosomal recessive gene mutations, homozygosity of Xchromosomal