Naslov
Interstitial del(11)(q14q21) associated with severe malformation syndrome

Autori
Barišić, Ingeborg ; Lasan, Ružica ; Petković, Iskra ; Morožin, Leona

Izvornik
Cytogenetics and Cell Genetics (1018-2438) 85 (1999), 1-2;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
chromosome 11; congenital malformations

Sažetak
We report on a 14-month-old girl with a de novo interstitial deletion of chromosome 11, del(11)(pter--q14::q22--ter), confirmed with fluorescent in-situ hybridisation. Dysmorphic features included brachymicrocephaly, high and slightly sloping forehead, flat face with poor facial expression, bilateral epicanhtic folds, prominent nasal bridge, short nose with anteverted nares, large, low set and dysplastic ears with preauricular pits, hypoplastic maxilla and small jaw. There was postnatal growth retardation, hypotonia and marked mental and developmental delay. She had seizures which prompted further neurologic evaluation. Diffuse brain atrophy and agenesis of corpus callosum were shown by computed tomography. She also had right hydronephrosis, and a dilated right ureter. Due to the few reports on patients with identical or similar breakpoint positions, it is difficult to draw any conclusions with regard to the delineatin of the typical phenotype. Associated brain and urogenital malformations have not been previously reported in patients with interstitial deletion of the long ar of chromosome 11.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA