title: [13q syndrome--partial monosomy of the long arm of chromosome 13].
abstract: Examination of spontaneous abortions often reveals deletion 13q-. The authors report on a case of de novo deletion in a female newborn with karyotype 46,XX,del (13) (q33) and discuss the problems of the mapping of clinical syndromes. The critical part of the 13q- syndrome is presumably the band 13q33 and/or 13q34. In clinically suspicious cases chromosome visualization should be done with reliable methods (R-banding) in order to detect even very small defects. The gene localisation of esterase D is obviously proximal of the terminal part of chromosome 13.
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D004950:Esterases; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D013577:Syndrome
chemical_list: D004950:Esterases
vernacular_title: Das 13q- Syndrom--Di partielle Monosomie für den distalen Abschnitt des langen Armes des Chromosom 13.