Naslov
Pure terminal 14q deletion-case report

Autori
Barišić, Ingeborg ; Petković, Iskra

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Chromosome Research / Herbert Macgregor - : Springer, 2007, 34-35

Skup
6th European Cytogenetics Conference (6th ECC)

Mjesto i datum
Istanbul, Turska, 07.07.2007. - 10.07.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Deletion; chromosome 14; developmental delay

Sažetak
Terminal deletions of the long arm of chromosome 14 are relatively rare. constitutional chromosomal aberrations. The loss of chromosomal segment may be due to translocations, ring chromosomes formation and pure deletions. Clinical presentation is highly influenced by the kind of structural rearrangement, additionally affected segments and size of deletion. More than 50 cases of ring chromosome 14 have been reported and common clinical features have been described. On the other hand, linear terminal deletions are rare and reported in seven cases so far. Precise identification of chromosomal aberration by FISH or molecular method was performed in only four out of seven reported patients. In this report we present additional case of de novo terminal 14q deletion. Our patient is 5-years old girl with microcephaly, dysmorphic features including high forehead with bitemporal narrowing, telecanthus, blepharophimosis, broad nasal bridge, hypoplastic nares, dysplastic ears, high arched palate, thin upper lip, small down-turned mouth and receding chin. She showed mild developmental delay, but detailed clinical and laboratory investigation did not show additional abnormalities. Cytogenetic analysis revealed normal karyotype while FISH subtelomere screening identified terminal deletion of 14q. The aberration was further verified by FISH with chromosome specific subtelomeric and whole chromosome painting probe. Both parents presented with normal karyotype. The clinical features observed in our patient correspond with that observed in so far reported patients, and further contribute to the definition of the phenotype associated with linear terminal deletion of chromosome 14.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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