Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I, Canto-Herrera J

Language: English
References: 3
Page: 235-238
PDF size: 57.89 Kb.

ABSTRACT

Introduction. Ring chromosome is a chromosomal aberration which can be found in patients of small stature, minor dismorphies and normal intelligence. Those produced by ring chromosome 7 are rare. The most frequent findings in such cases include small stature, microcephaly and dermatological abnormalities.
Clinical case. In this paper we report a male child with mosaic ring seven chromosome who had unusual hypoacusia and hypochromic dermal spots. Other clinical findings were similar to some previously reported in patients with the same chromosomal abnormality: low height, weight and OFC, mental retardation, dermatological abnormalities and few dysmorphies.
Discussion. Altough most manifestations present in this patient have been described before, this is the first report in which severe hypoacusia is found, and the second with hypocromic spots. We propose this skin manifestation could be included in the variability of dermatological expressions of ring seven. Additionally we recommend further investigation about hearing ability in patients with chromosome 7 abnormalities in subtelomeric regions.

REFERENCES

1. Zackai EH, Breg WR. Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet 1973; 12:40-8.

2. Nakano S, Miyamoto N. A ring C7 chromosome in a mentally and physically retarded male .with various somatic abnormalities. Jap J Human Genet 1977; 22:33-41.

3. Delozier CD, Theintz G, Sizonenko P, Engel E. A foutrh