03q1312

3q13.12

Publication Details

  • Genuardi M, Calvieri F, Tozzi C, Coslovi R, Neri G.: A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. Clin. Dysmorphol. 3:292-296, 1994. [PubMed: 7894733]
    46,XY,del(3)(q13.12q21.3)de novo
    A PUBS karyotype at 23rd week was reported as normal. Agenesis of the corpus callosum was detected by ultrasound at 22nd week. At the age of 5 months CCA was confirmed, and other dysmorphic features were noted.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
    Index Terms: Corpus callosum agenesis of