Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.

摘要: Interstitial deletions of 3q have, to our knowledge, been reported in only four patients. We present an additional patient with interstitial deletion 3q, breakpoints at 3q23 and 3q25. The was small for gestational age had a multiple congenital anomalies (MCA) syndrome including microcephaly; unusual facial appearance bilateral microphthalmia, blepharophimosis, ptosis; ventricular septal defect; clubfeet. Comparison between the clinical cytogenetic findings case those previously cases suggests that recognizable phenotype may be associated 3q2.