Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Microdeletion syndromes > del(14)(q32.2)

del(14)(q32.2)

Sunday 18 December 2005

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#