Naslov
A new case of partial trisomy 16q

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

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

Izvornik
Book of Abstracts of the European Human Genetics Conference ; u: European Journal of Human Genetics. Supplement / - , 2003, 124-124

Skup
European Human Genetics Conference

Mjesto i datum
Birmingham, Ujedinjeno Kraljevstvo, 03.05.2003. - 06.05.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
partial trisomy 16q; dup 16q; behavioural distrubances

Sažetak
Trisomy 16q is a rare condition in liveborn infants. Some 28 cases have been reported and most cases are due to unbalanced translocation. Clinical presentation is not well defined bacause it is usually associated with loss or gain of an other chromosome involved in the rearangement, while duplications are quite rare. In this report we present the results of clinical and cytogenetic investigation in 10-years-old girl. Clinical examination showed dysmorphic traits, including hypoplastic supraorbital ridges, epicanthus, dysplastic, low-set ears, full cheeks, thin lips, micrognathia. Her somatic and intellectual development were within normal range, although she experienced learning difficulties, mostly due to behavioural problems, aggressiveness and disobedience. Cytogenetic analysis was performed on peripheral blood culture of the patient and her parents. Both parents presented with normal karyotype, while cytogenetic analysis in the proband identified an extra GTG-positive band in the long arm of chromosome 16. FISH with chromosome 16 painting probe stained the aberrant chromosome completely. Analysis thus suggested the duplication of the long arm of chromosome 16, most probably involving 16q13-q22 region. It has been proposed that the duplication of the distal long arm segment may cause typical features of trisomy 16q, including short survival. On the other hand, the comparison of our patient to other reported cases revealed that trisomy for the proximal segment of the long arm of chromsome 16 may be associated with mild clinical presentation and behavioural problems as a major manifestation.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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