Literature DB >> 3760837

Pericentric inversions of the X chromosome. A new observation and review of the published cases.

R A Pfeiffer, M Kossakiewicz, C Baisch.   

Abstract

A pericentric inversion of the X chromosome-inv(X) (p11.3q22) is transmitted in 3 generations. Male and female carriers are normal. The proposita is tetraplegic, severely retarded and suffers from general seizures. Grand mal seizures are known in the mother and grandmother. Different proportions of inactive X chromosomes in the proposita and the normal sister are discussed. The published cases of inv(X) are reviewed.

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Year:  1986        PMID: 3760837

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  1 in total

Review 1.  A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion.

Authors:  D P Duckett; I D Young
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

  1 in total

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