WAIKOLOA VILLAGE, HAWAII--A simple blood test can now identify families with velocardiofacial syndrome, a chromosome abnormality that occurs in 1 in every 2,000 live-born infants.
The syndrome, caused by a sporadic or autosomally inherited microdeletion on chromosome 22q, can result in a broad spectrum of abnormalities, Dr. Aubrey Milunsky said at a conference on obstetrics, gynecology, perinatal medicine, neonatology, and the law.
These abnormalities include subtle dysmorphic features of a long and narrow face, flat cheeks, and minor ear anomalies. Other conditions associated with the syndrome include cleft palate, speech defects, developmental delay, mental retardation congenital cardiac defects, and psychiatric disorders.
Women with a cluster of these conditions in their family history warrant prenatal genetic counseling for possible testing using a technique called fluorescence in situ hybridization (FISH), said Dr. Milunsky, professor of human genetics, pediatrics, ob.gyn., and pathology at Boston University.
In children, congenital heart defects and learning disabilities are the most common manifestations that should prompt a referral to a geneticist, he added at the meeting, sponsored by the university.
Of note is that the psychiatric conditions associated with velocardiofacial syndrome change with age. Children with the syndrome who are 5-10 years old tend to have attention-deficit hyperactivity disorder. Those 11-18 years old tend to have bipolar disorder or obsessive-compulsive disorder. Adults tend to have bipolar disorder, psychosis, or schizoaffective disorder, he said.
COPYRIGHT 2000 International Medical News Group
COPYRIGHT 2001 Gale Group