Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1991 Feb-Mar;38(2-3):370-3.
doi: 10.1002/ajmg.1320380242.

Cytogenetically negative, linkage positive "fragile X" syndrome

S Sklower Brooks  1 , I Cohen, C Ferrando, E C Jenkins, W T Brown, C Dobkin
Affiliations
Case Reports

Cytogenetically negative, linkage positive "fragile X" syndrome

S Sklower Brooks et al. Am J Med Genet. 1991 Feb-Mar.

Abstract

We investigated the family of a 3-year-old boy with manifestations of the Martin-Bell syndrome (MBS). His 17-year-old cousin had classic manifestations of MBS and was fragile X [fra(X)] positive. The 3-year-old boy was fra(X) negative. Linkage analysis with probes flanking the fra(X) region indicated that these cousins had the same X chromosome inherited from a normal grandfather. The DNA and cytogenetic analyses suggest that limitations in the ability to detect the fra(X) mutation cytogenetically may be responsible for fra(X)-negative MBS; or, alternatively, that a crossover occurred between a locus determining the MBS phenotype and one determining fra(X) expression.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Publication types

LinkOut - more resources