Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus.
We report an 18-week-old fetus with at 47, XY, -12, +12q, +psu idic(12p) karyotype, mild dysmorphic features and absence of the brachiocephalic truncus.
Plaja
A
A
Unitat de Genètica, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.
Mediano
C
C
Farran
I
I
Vendrell
T
T
Toran
N
N
Gili
T
T
Sanchez
M A
MA
Sarret
E
E
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D016122:Brachiocephalic Trunk / Q000196:embryology*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D005145:Face / Q000196:embryology / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005333:Fetus / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D014314:Trisomy