Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born.
OBJECTIVE
To present the prenatal diagnosis case of pure trisomy 1q21-qter with translocation to chromosome Y in all cells analysed.


METHODS
Amniocentesis for chromosomal analysis was performed at 15 gestational weeks because it showed a fetal nuchal thickness by ultrasound examination. GTG banding and FISH analysis were carried out.


RESULTS
In spite of the unfavourable fetal prognosis, the couple decided to continue the gestation. Ultrasonographic controls performed between the 20th and 34th weeks showed a male fetus with multiple abnormalities. The propositus was born at 35 weeks' gestation, surviving 40 min.


CONCLUSIONS
Our patient's clinical anomalies were compared with two cases of trisomy 1q in all cells and five mosaicisms with the object of defining this syndrome, which we consider important for future genetic counselling.
Fernández-Novoa
M C
MC
Unidad de Genética H U V Macarena, Sevilla, Spain. mtvargas@us.es
Vargas
M T
MT
Granell
M R
MR
Carreto
P
P
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000649:Amniocentesis; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis; D014178:Translocation, Genetic; D014314:Trisomy; D016216:Ultrasonography, Prenatal