Dieter Kotzot1. 1. Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstr. 41, A-6020, Innsbruck, Austria. DieterKotzot@gmx.de
Abstract
INTRODUCTION: Growth retardation has been reported in most cases of maternal uniparental disomy (UPD) 7 and 14, but has never been evaluated in a systematic approach. In this study, an analysis is presented of the auxological data from the literature at birth and on the occasion of the last evaluation of 34 cases with maternal UPD 7 (21 heterodisomy, 13 isodisomy) and 29 cases with maternal UPD 14 (22 heterodisomy, 7 isodisomy). For maternal UPD 7, statistical analysis revealed that length and weight at birth as well as on the occasion of the last evaluation were strongly below average (-2.94 SD and -2.62 SD, and -3.39 SD and -3.11 SD, respectively), whereas at both evaluations occipitofrontal head circumference (OFC) was only slightly below the average (-1.00 SD and -0.85 SD). For maternal UPD 14 at birth, growth retardation is rather concordant for length, weight, and OFC (-2.78 SD, -2.84 SD, and -1.69 SD). Later in life body mass index (BMI) is above average (1.06 SD) and continuously increasing before and after puberty (-0.58 SD and 2.07 SD). CONCLUSION: Growth retardation and relative macrocephaly are of prenatal onset and still present in adults with maternal UPD 7. For patients with maternal UPD 14, growth curves for height, BMI and OFC differ strongly. Genomic imprinting might be a major causative factor, but it seems to function differently for maternal UPD 7 and maternal UPD 14.
INTRODUCTION:Growth retardation has been reported in most cases of maternal uniparental disomy (UPD) 7 and 14, but has never been evaluated in a systematic approach. In this study, an analysis is presented of the auxological data from the literature at birth and on the occasion of the last evaluation of 34 cases with maternal UPD 7 (21 heterodisomy, 13 isodisomy) and 29 cases with maternal UPD 14 (22 heterodisomy, 7 isodisomy). For maternal UPD 7, statistical analysis revealed that length and weight at birth as well as on the occasion of the last evaluation were strongly below average (-2.94 SD and -2.62 SD, and -3.39 SD and -3.11 SD, respectively), whereas at both evaluations occipitofrontal head circumference (OFC) was only slightly below the average (-1.00 SD and -0.85 SD). For maternal UPD 14 at birth, growth retardation is rather concordant for length, weight, and OFC (-2.78 SD, -2.84 SD, and -1.69 SD). Later in life body mass index (BMI) is above average (1.06 SD) and continuously increasing before and after puberty (-0.58 SD and 2.07 SD). CONCLUSION:Growth retardation and relative macrocephaly are of prenatal onset and still present in adults with maternal UPD 7. For patients with maternal UPD 14, growth curves for height, BMI and OFC differ strongly. Genomic imprinting might be a major causative factor, but it seems to function differently for maternal UPD 7 and maternal UPD 14.
Authors: S Russo; M F Bedeschi; F Cogliati; F Natacci; A Gianotti; R Parini; A Selicorni; L Larizza Journal: Clin Dysmorphol Date: 2000-07 Impact factor: 0.816