46,X,i(Xq)/45,X mosaicism with gonadal dysgenesis associated with 21p-.

Abstract:

:This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possessed the deleted chromosome 21. Our case supports the idea that minor chromosome aberrations may increase the inclination for the development of unbalanced recombinant offsprings.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Gaál M,Tóth A,Bösze P,László J

doi

10.1111/j.1399-0004.1984.tb00467.x

subject

Has Abstract

pub_date

1984-01-01 00:00:00

pages

79-83

issue

1

eissn

0009-9163

issn

1399-0004

journal_volume

25

pub_type

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