Abstract
A mentally retarded 8-year-old boy with a de novo partial monosomy for the short arm of the No. 8 chromosome is described. Based on G-banding analysis, the patient's karyotype was identified in lymphocytes and skin fibroblasts as 46,XY,del(8) (pter→p21:). No chromosomal abnormalities were found in the phenotypically normal mother, father and sister of the propositus. Four further cases described in the literature indicate that partial monosomy of the short arm of the No. 8 chromosome might be associated with a syndrome characterized by the following stigmata: mental retardation, slow growth, high forehead, broad chest, wide-set nipples, pulmonary stenosis with atrial and/or ventricular septal defect, hypoplasia of the genitalia, dermatoglyphic stigmata.
Zusammefassung
Es wird der Fall eines geistig retardierten 8jährigen Knaben mit einer de novo Defizienz des kurzen Arms eines Chromosoms 8 beschrieben. Mit Hilfe einer G-Banden-Methode wurde in Lymphocyten und Fibroblasten der Karyotyp 46,XY,del(8) (pter p21:) festgestellt. Die Chromosomenbefunde der phänotypisch unauffälligen Mutter, Vater und Schwester waren normal. Veröffentlichungen über 4 ähnliche Patienten weisen auf das Vorliegen eines neuen Syndroms der partiellen Monosomie des kurzen Arms des Chromosoms 8 hin, das durch folgende Stigmata charakterisiert ist: geistige Retardierung, langsames Wachstum, hohe Stirn, breiter Brustkorb, weiter Mamillenabstand, Pulmonalstenose, Atrium- und/oder Ventrikulum-Septumdefekt, Hypoplasie der Genitalia, dermatoglyphische Stigmata.
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Rodewald, A., Stengel-Rutkowski, S., Schulz, P. et al. New chromosomal malformation syndromes. Eur J Pediatr 125, 45–57 (1977). https://doi.org/10.1007/BF00470605
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DOI: https://doi.org/10.1007/BF00470605