American Journal zyx of Medical Genetics zy 47:848-851 (1993) z Prenatal Detection of de Novo Paracentric Inversion 46, XX inv (14) (q22q32.1) in a Normal Child: Report and Review of the Literature Holly Ann Hales, C. Matthew Peterson, John Carey, Barbara Kaiser-McCaw Hecht, and Frederick Hecht zyxwvutsr Department zyxwvutsrqp of Obstetrics and Gynecology, University of Utah Medical Center, Salt Lake City, Utah (H.A.H., C.M.P., J.C.); and Hecht Associates, Znc., Jacksonville, Florida (B.K.-M.H., F.H.) zyxwv ~ We present prenatal diagnosis and follow-up examination of an individual with a de novo paracentric inversion of the long are of chro- mosome zyxwvuts 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifested significant abnormalities with mental retardation and microcephaly present in zyxwvu 3 of the 4 cases; 15% (2/13) of familial cases had abnormalities and 40% (2/5) of de novo cases had abnormalities. 0 1993 Wiley-Lies, Inc. KEY WORDS: paracentric inversion, chro- mosome 14, mental retarda- tion INTRODUCTION Since 1974,banding patterns have allowed the recog- nition of paracentric inversions. Although many para- centric inversions cases have been documented since this time, only a few cases ofparacentric inversion of 14q have been reported. Due to limited documentation avail- able for review, it is difficult to draw any conclusionwith regard to the possible predictive value of analyzing the breakpoints of inversion. Because of this, it is difficult to provide counseling to parents of prenatally diagnosed chromosome 14 inversion cases. In this case report and review of the literature, we attempt to collate the infor- mation available on paracentric inversion of 14q. We report on an individual with paracentric inversion of chromosome 14 (q22q32.1)found at amniocentesis for advanced maternal age and discuss the implications of this finding in light of the literature available. Received for publication February 16, 1993; revision received June 28,1993. Address reprint requests to C. Matthew Peterson, M.D., Depart- ment of Obstetrics and Gynecology, University of Utah Medical Center, Salt Lake City, UT 84132. 0 1993 Wiley-Liss, Inc. CLINICAL REPORT L.D. was a G5P4004 36-year-old white woman who presented at Maricopa Medical Center for genetic am- niocentesis for advanced maternal age. Amniocentesis performed on May 16,1985, documented a paracentric inversion 14q with specific breakpoints in bands 14q22 and 14q32.1. Subsequently, both L.B. and her husband underwent lymphocyte chromosome analysis showing normal chromosomes and banding patterns. After normal gestation, L.B. delivered a girl on Octo- ber 29, 1985, weighing 2,978 g with Apgar scores of 9 and 10 at 1 and 5 minutes of age, respectively. Birth length was 48.3 cm, head circumference 33.0 em, and chest circumference 33.0, all within normal limits. The only abnormality noted on physical exam was minor; she had 3 dimples in the sacral region without underly- ing bony abnormalities on roentgenogram. Chromosome analysis on the infant confirmed a 46, XX, inv (14); (q22q32.1) anomaly (Fig. 1). Subsequent I 2 3 321 14 Fig. 1. A karyotype of the patient’s chromosome 14 with para- centric inversion (14)(q22q32.1) and schematic inversion of chromo- some 14 (q22q32.1). Arrows demonstrate inversion of genetic material within the breakpoints.