title: A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate.
abstract: We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35 weeks. The karyotype was unusual, with 46, XY, der (6), t (6;12) (p24; p12) mat. The pregnancy was terminated at 37 gestational weeks. The aborted fetus displayed dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, short nose, broad and depressed nasal bridge, anteverted nares, deformed philtrum, open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. Fetal anatomy showed right artery catheter vagus, congenital cataract, no turbinate and external auditory canals. Through karyotype-phenotype analysis of this patient and a review of other reported cases, we believe this is a first report that expands the database of partial trisomy 12p, and is beneficial for future clinical genetic counseling. This study supports that phenotypic variability depends on the type and extent of the associated partial monosomy.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, China.
authors.forename: Yan-Hui
authors.initials: YH
authors.lastname: Liu
authors.forename: Run-Gui
authors.initials: RG
authors.lastname: Xie
authors.forename: Xiao-Yan
authors.initials: XY
authors.lastname: Zhang
authors.forename: Shun-di
authors.initials: SD
authors.lastname: Wei
authors.forename: Yi
authors.initials: Y
authors.lastname: He
authors.forename: Wang-Fang
authors.initials: WF
authors.lastname: Xu
authors.forename: Yang-Yang
authors.initials: YY
authors.lastname: Lin
authors.forename: Fu
authors.initials: F
authors.lastname: Xiong
mesh_terms: D000328:Adult; D001011:Aorta / Q000002:abnormalities; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004424:Ear Canal / Q000002:abnormalities; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D014420:Turbinates / Q000002:abnormalities
chemical_list: D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; C486174:TRAM1 protein, human