First case of trisomy 13 plus mosaic trisomy 1q.
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.
Liehr
Thomas
T
Institute of Human Genetics and Anthropology, Jena, Germany. i8lith@mti-n.mti.uni-jena.de
Schmidt
Matthias
M
Starke
Heike
H
Ziegler
Monika
M
Kittner
Gabriele
G
Heller
Anita
A
Rubtsov
Nikolai
N
Trifonov
Vladimir
V
Claussen
Uwe
U
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