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Naslov:A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
Avtorji:ID Krgović, Danijela (Avtor)
ID Blatnik, Ana (Avtor)
ID Burmas, Ante (Avtor)
ID Zagorac, Andreja (Avtor)
ID Kokalj-Vokač, Nadja (Avtor)
Datoteke:.pdf BMC_Medical_Genetics_2014_Krgovic_et_al._A_coalescence_of_two_syndromes_in_a_girl_with_terminal_deletion_and_inverted_duplication_of_chr.pdf (1,07 MB)
MD5: 3FB3A23CE00FE36E16F5F155329C34E3
 
URL http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-15-21
 
Jezik:Angleški jezik
Vrsta gradiva:Znanstveno delo
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:MF - Medicinska fakulteta
Opis:Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particular characteristics such as speech delay, cat-like cry and mental retardation, caused by distinct deletions of 5p. A varied clinical outcome was also observed in patients with Trisomy 5p. Duplications of 5p10-5p13.1 manifest themselves in a more severe phenotype, while trisomy of regions distal to 5p13 mainly causes mild and indistinct features. Combinations of a terminal deletion and inverted duplication of 5p are infrequent in literature. Consequences of these chromosomal rearrangements differ, depending on size of deletion and duplication in particular cases, although authors mainly describe the deletion as the cause of the observed clinical picture. Case presentation: Here we present a 5-month-old Slovenian girl, with de novo terminal deletion and inverted duplication of chromosome 5p. Our patient presents features of both CdC and Trisomy 5. The most prominent features observed in our patient are a cat-like cry and severe malformations of the right ear. Conclusion: The cat-like cry, characteristic of CdC syndrome, is noted in our patient despite the fact that the deletion is not fully consistent with previously defined cat-like cry critical region in this syndrome. Features like dolichocephaly, macrocephaly and ear malformations, associated with duplication of the critical region of Trisomy 5p, are also present, although this region has not been rearranged in our case. Therefore, the true meaning of the described chromosomal rearrangements is discussed.
Ključne besede:deletion with inverted duplication of 5p, trisomy 5, cri-du-chat syndrome, cat-like cry, ear agenesis
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Leto izida:2014
Št. strani:str. 1-9
Številčenje:Letn. 15
PID:20.500.12556/DKUM-66494 Novo okno
ISSN:1471-2350
UDK:575
COBISS.SI-ID:4929087 Novo okno
DOI:10.1186/1471-2350-15-21 Novo okno
ISSN pri članku:1471-2350
NUK URN:URN:SI:UM:DK:USYTAH4P
Datum objave v DKUM:28.06.2017
Število ogledov:1566
Število prenosov:404
Metapodatki:XML DC-XML DC-RDF
Področja:Ostalo
:
KRGOVIĆ, Danijela, BLATNIK, Ana, BURMAS, Ante, ZAGORAC, Andreja in KOKALJ-VOKAČ, Nadja, 2014, A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5. BMC Medical Genetics [na spletu]. 2014. Vol. 15, p. 1–9. [Dostopano 25 april 2025]. DOI 10.1186/1471-2350-15-21. Pridobljeno s: https://dk.um.si/IzpisGradiva.php?lang=slv&id=66494
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Gradivo je del revije

Naslov:BMC Medical Genetics
Skrajšan naslov:BMC Med. Genet.
Založnik:BioMed Central
ISSN:1471-2350
COBISS.SI-ID:2440468 Novo okno

Gradivo je financirano iz projekta

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:P4-0220
Naslov:Primerjalna genomika in genomska biodiverziteta

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:28.06.2017

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:delecija z invertno duplikacijo 5p, trisomija 5, sindrom cri-du-chat, mačji jok, ageneza ušesa


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