14q32.2 c-deletion
14q32.2 constitutional deletion
Synopsis
increased nuchal translucency
omphalocele
fetal hydrops
severe hypoplasia of the median part of the maxilla
no recognizable nose
broad median palatoschisis
nonlobulated lungs
horseshoe kidney with multicystic renal dysplasia
decreased development of cortical cellularity in the thymus
Associations
maternal 46,XX,t(13;14) (q34;q32.2)
References
de Pater JM, Nikkels PG, Poot M, Eleveld MJ, Stigter RH, van der Sijs-Bos CJ, Loneus WH, Engelen JJ. Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q. Pediatr Dev Pathol. 2005 Jul-Aug;8(4):497-503. PMID: #16222479#
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