title: Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.
abstract: The case of a neonate with clinical symptoms of DiGeorge syndrome is reported. During pregnancy the measurements by ultrasonography revealed already a significant growth retardation of the fetus, for the first time obvious in the 20th week. The child died immediately after birth. A de novo translocation X/22 was observed with the translocation chromosome being late replicating in all mitoses analysed. The own observation is discussed regarding other cases with DiGeorge syndrome and taking the differential diagnoses into account. count.
authors.affiliation: Institut für Humangenetik der Universität, Bonn, FRG.
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
authors.forename: K
authors.initials: K
authors.lastname: Zerres
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic; D014960:X Chromosome