title: Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.
abstract: This manuscript reports a fetus of 24 weeks gestation, detected on echography to have congenital anomalies: intra-uterine growth retardation, facial dysmorphism, ventricular septal defect with aortic displacement and 8-mm nuchal skinfold thickness. Karyotype was performed. Post termination of pregnancy autopsy showed additionnal internal organ anomalies included: absent gall bladder and thyroid isthmus agenesis. To our knowledge, these anomalies have never been described in trisomic 22 fetuses. This case suggests that chromosome 22 could play a role in thyroid development.
authors.affiliation: Faculté des Sciences de la Santé de Cotonou, 01 BP 188, Cotonou, Bénin.
authors.forename: E
authors.initials: E
authors.lastname: Gangbo
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: E M
authors.initials: EM
authors.lastname: Alberti
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: R
authors.initials: R
authors.lastname: Saura
authors.forename: D
authors.initials: D
authors.lastname: Carles
mesh_terms: D002503:Centromere / Q000235:genetics; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005704:Gallbladder / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D013961:Thyroid Gland / Q000002:abnormalities*; D014314:Trisomy / Q000235:genetics*