American Journal of Medical Genetics 42:326-330 (1992)
Duplication of Distal 19q: Clinical Report and Review Ellen Boyd, Frank S. Grass, James C. Parke, Kam Knutson, and Roger E. Stevenson Greenwood Genetic Center, Greenwood. South Carolina (E.B., R.E.S.) and Carolinas Medical Center, Charlotte, North Carolina (F.S.G., J.C.P., K.K.) We report on a 20-month-oldboy with duplication of the distal part of 19q. His karyotype is 46,XY, - 22, + der(22),t(19;22)(q13.3;p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation,and growth impairment. These characteristics are similar to those in the other 10 reported cases of distal 19q duplication and help delineate the phenotype. A review of the literature is presented. KEY WORDS: duplication of distal 19q, mental retardation, seizures, congenital heart defect, MCAiMR syndrome INTRODUCTION Duplication 19q was first described in 2 sibs by Lange and Alfi in 1976. Three of 10 reported cases arose because of unbalanced segregation of translocations involving 19q and 22p. This case also involves a translocation between chromosomes 19q and 22p and may demonstrate pure dup(l9q) since deletion of the short arm and satellite material from chromosome 22 is not known to have phenotypic effects. CLINICAL REPORT The propositus was born at 39 weeks gestation to a 31year-old gravida 7, therapeutic abortion 1,spontaneous abortion 5, para 1mother and a 32-year-old father. Because of recurrent abortions, parental chromosome analyses had been performed previously and interpreted as normal. During this pregnancy, the mother received injections and suppositories of hydroxyprogesterone, two paternal leukocyte transfusions, and cervical cerclage. She smoked 112 pack of cigarettes per day and ingested infrequent alcoholic beverages during the first month of pregnancy. The propositus was delivered by cesarean birth because of decreased fetal activity. Apgar scores were 6 at 1 min and 8 a t 5 min. Received for publication February 20, 1991; revision received June 3, 1991. Address Reprint Requests to Ellen Bo,yd, M.D., Greenwood Genetic Center, l Gregor Mendel Circle, Greenwood, SC 29646.
0 1992 Wiley-Liss, Inc.
Physical examination documented a small-for-gestation infant with weight 2,254 g (
Duplication of Distal 19q: Clinical Report and Review Ellen Boyd, Frank S. Grass, James C. Parke, Kam Knutson, and Roger E. Stevenson Greenwood Genetic Center, Greenwood. South Carolina (E.B., R.E.S.) and Carolinas Medical Center, Charlotte, North Carolina (F.S.G., J.C.P., K.K.) We report on a 20-month-oldboy with duplication of the distal part of 19q. His karyotype is 46,XY, - 22, + der(22),t(19;22)(q13.3;p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation,and growth impairment. These characteristics are similar to those in the other 10 reported cases of distal 19q duplication and help delineate the phenotype. A review of the literature is presented. KEY WORDS: duplication of distal 19q, mental retardation, seizures, congenital heart defect, MCAiMR syndrome INTRODUCTION Duplication 19q was first described in 2 sibs by Lange and Alfi in 1976. Three of 10 reported cases arose because of unbalanced segregation of translocations involving 19q and 22p. This case also involves a translocation between chromosomes 19q and 22p and may demonstrate pure dup(l9q) since deletion of the short arm and satellite material from chromosome 22 is not known to have phenotypic effects. CLINICAL REPORT The propositus was born at 39 weeks gestation to a 31year-old gravida 7, therapeutic abortion 1,spontaneous abortion 5, para 1mother and a 32-year-old father. Because of recurrent abortions, parental chromosome analyses had been performed previously and interpreted as normal. During this pregnancy, the mother received injections and suppositories of hydroxyprogesterone, two paternal leukocyte transfusions, and cervical cerclage. She smoked 112 pack of cigarettes per day and ingested infrequent alcoholic beverages during the first month of pregnancy. The propositus was delivered by cesarean birth because of decreased fetal activity. Apgar scores were 6 at 1 min and 8 a t 5 min. Received for publication February 20, 1991; revision received June 3, 1991. Address Reprint Requests to Ellen Bo,yd, M.D., Greenwood Genetic Center, l Gregor Mendel Circle, Greenwood, SC 29646.
0 1992 Wiley-Liss, Inc.
Physical examination documented a small-for-gestation infant with weight 2,254 g (
