Interstitial deletion of chromosome 2q associated with ovarian dysgenesis.
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.
Davis
E
E
Department of Pathology, University of California, San Diego.
Grafe
M
M
Cunniff
C
C
Jones
K L
KL
Bogart
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010053:Ovary / Q000002:abnormalities*