Case 2

A 43-year-old woman was reported who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis (Chen et al., 1999). Cytogenetic analyses showed the presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. Fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The authors concluded that the adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both. However, it is also possible that the isochromosomes 1p and 1q contain undetectable chromosomal gains or losses.

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