Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities.
We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3;5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum.
Entezami
M
M
Department of Gynecology, University Medical Center Benjamin Franklin, Free University of Berlin, Germany. Entezami@ukbf.fu-berlin.de
Coumbos
A
A
Runkel
S
S
Vogel
M
M
Wegner
R
R
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging* / Q000235:genetics; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D004933:Esophageal Atresia / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009006:Monosomy; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D014469:Umbilical Arteries / Q000648:ultrastructure