Naslov
Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2 ; 4)(p25.1 ; q31.3)

Autori
Škrlec, Ivana ; Wagner, Jasenka ; Pušeljić, Silvija ; Heffer, Marija ; Stipoljev, Feodora

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

Izvornik
2nd ‘AnEUploidy’ Workshop / - , 2010, 68-68

Skup
2nd ‘AnEUploidy’ Workshop

Mjesto i datum
Split, Hrvatska, 16.09.2010. - 19.09.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
partial monosomy 2p ; partial trisomy 4q ; translocation ; fluorescence in situ hybridization

Sažetak
Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal region involved. Monosomy 2p is usually observed as a part of more complex syndromes among proband of balanced reciprocal translocation carriers. Partial monosomy 2p (2p25.1→pter) has also been shown to cause a characteristic phenotype associated with severe mental retardation. Trisomy of the long arm of chromosome 4 is well studied pathology. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the chromosomal arm 4q and specific associated monosomy. Clinical findings were compatible with those previously reported in dup4q and del2p patients. Although partial trisomy 4q and partial monosomy 2p vary in their phenotypes, they also have many features in common such as developmental delay, mental retardation, hypertelorism, low set ears, epicanthic folds and hand anomalies. Herein are presented the clinical and cytogenetic findings in a 4-years-old female with karyotype 46, XX, der(2)t(2 ; 4)(p25.1 ; q31.3)pat. Clinical phenotypes in these translocation cases are variable, because the involved breakpoints vary case-by-case. We compare in this report similarity of the clinical features of our patient and other patients carrying a duplication of the distal part of 4q and patients carrying a deletion of distal part of 2p as described in the literature. To our knowledge, this is the first case of partial trisomy 4q accompanied with partial monosomy for 2p.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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