Abstract
Menkes disease is an X-linked recessive disorder of copper metabolism, characterized by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We present a female Menkes patient, with classical Menkes features, carrying a de novo balanced translocation 46,X,t(X;1)(q13;q12). The breakpoint on the X chromosome was narrowed down to Xq13.3 within a 1 Mb YAC contig containing the Menkes gene, using fluorescence in situ hybridization. The translocated X chromosome was of paternal origin and non-randomly active leading to the expression of the disease. This was additional evidence for paternal origin of de novo chromosome rearrangements, including all the X; autosomal translocations examined so far.
Original language | English |
---|---|
Journal | Clinical Genetics |
Volume | 46 |
Issue number | 4 |
Pages (from-to) | 295-8 |
Number of pages | 4 |
ISSN | 0009-9163 |
DOIs | |
Publication status | Published - Oct 1994 |
Externally published | Yes |
Keywords
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 1
- Dosage Compensation, Genetic
- Fathers
- Female
- Genomic Imprinting
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping
- Menkes Kinky Hair Syndrome/genetics
- Translocation, Genetic
- X Chromosome