The fetal phenotype of partial 2q trisomy.
A 22-week-old fetus with partial trisomy 2q (q24.1-->qter) and 7q35 monosomy is described. To our knowledge, this represents the greatest unbalanced 2q chromosomal segment published in the literature. The clinical phenotype is in agreement with previous descriptions in children and allows us to propose a fetal phenotype for this chromosomal abnormality.
Siffroi
J P
JP
Laboratoire de Biologie, de la Fertilité et de Cytogénétique, Hôtel-Dieu de Paris, France.
Gomes
D M
DM
Roume
J
J
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007621:Karyotyping; D009006:Monosomy / Q000473:pathology; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy / Q000473:pathology*; D016216:Ultrasonography, Prenatal