SEX-LINKED MENTAL DEFICIENCY, UNUSUAL FACIES, MACROORCHIDISM AND FRAGILE SITE ON CHROMOSOME-X
- 1 January 1979
- journal article
- research article
- Vol. 22 (4), 205-209
Abstract
The association of mental deficiency, macroorchidism and a fragile site on chromosome X [fra(X)(q28)] is reported in a 13 yr old boy who also exhibited a peculiar facies reminiscent of trisomy 8. This particular facies is considered part of the clinical syndrome associated with the fra(X)(q28). The fra(X)(q28) was not found in the mother nor in 2 normal sibs of the propositus. The significance of the marker is discussed in view of 2 hypotheses, close linkage between pathological gene(s) and the fra(X)(q28) and faulty transcription of the gene(s) beyond the fra(X)(q28).This publication has 12 references indexed in Scilit:
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