Premium
Interstitial deletion of chromosome 2q associated with ovarian dysgenesis
Author(s) -
Davis Everett,
Grafe M.,
Cunniff Christopher,
Jones Kenneth Lyons,
Bogart Mark
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03047.x
Subject(s) - proband , chromosomal translocation , genetics , craniofacial , karyotype , dysgenesis , chromosome , gonadal dysgenesis , biology , endocrinology , mutation , medicine , gene
In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.