title: First case of trisomy 13 plus mosaic trisomy 1q.
abstract: OBJECTIVE
  In a case with severe sonographic abnormalities followed by missed abortion in week 14 + 5 days, cytogenetic analysis was performed on placental tissue. A mosaic karyotype 47,XY,+13,add(1)(q44)[3]/47,XY, +13[9]/46,XY[36] was detected. The purpose of the present study was to characterize the additional material on chromosome 1q.
  
  
  METHODS
  According to GTG banding, the additional material on chromosome 1 was most probably chromosome 1 material. Thus, multicolor banding analysis using a chromosome 1 specific probe set was done to precisely describe the rearranged chromosome 1.
  
  
  RESULTS
  Molecular cytogenetic approaches revealed that the derivative chromosome 1 was der(1)(1p36.3-->1q44::1q12-->1q44).
  
  
  CONCLUSIONS
  This is the first description of a case with a trisomy 13 plus a partial trisomy 1q presenting with clinical signs of both aberrations. Moreover, the multicolor banding technique is suited to resolve complex karyotypes in the prenatal diagnosis, i.e., chromosome preparations of fibroblasts.
authors.affiliation: Institute of Human Genetics and Anthropology, Jena, Germany. i8lith@mti-n.mti.uni-jena.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Matthias
authors.initials: M
authors.lastname: Schmidt
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
authors.forename: Monika
authors.initials: M
authors.lastname: Ziegler
authors.forename: Gabriele
authors.initials: G
authors.lastname: Kittner
authors.forename: Anita
authors.initials: A
authors.lastname: Heller
authors.forename: Nikolai
authors.initials: N
authors.lastname: Rubtsov
authors.forename: Vladimir
authors.initials: V
authors.lastname: Trifonov
authors.forename: Uwe
authors.initials: U
authors.lastname: Claussen
mesh_terms: D000030:Abortion, Missed / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D014314:Trisomy; D016216:Ultrasonography, Prenatal