Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.
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.
Gangbo
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Faculté des Sciences de la Santé de Cotonou, 01 BP 188, Cotonou, Bénin.
Lacombe
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D
Alberti
E M
EM
Taine
L
L
Saura
R
R
Carles
D
D
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*