Naslov
Two cases with interstitial deletion of chromosome 2p

Autori
Letica, Ljiljana ; Lasan, Ružica ; Huljev, Sanda ; Tonković Đurišević, Ivana ; Crkvenac Gornik, Kristina ; Begović, Davor

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

Mjesto i datum
,

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
interstitial deletion; chromosome 2; postnatal diagnosis

Sažetak
Structural deletions of the short arm of the chromosome 2 are rare. We report two cases of interstitial deletion of chromosome 2p. First patient - physical evaluation at the age of three showed mild dysmorfic feature, low set protruding ears with mongoloid palpebral fissures. He was treated because of bilateral vesicouretheral reflux. His speech was poorly developed, with other signs of mild psychomotoric retardation. Chromosome analysis of blood cells with G-banding showed an interstitial deletion of chromosome 2p. Parental karyotypes were normal. Patients karyotype was 46, xy, del (2) (p12p10) de novo. Second patient, the two years old boy with several dismorphic features: prominent forehead, mongoloid palpebral fissures, epicanthic folds, broad nasal bridge, short, well formed philtrum, low set protruding ears and bilateral simian crease. He showed signs of mild psychomotoric developmental delay with poorly developed speech. Conventional banding cytogenetics showed an interstitial deletion of chromosome 2p. Karyotyping of the parents revealed that the father carried small ring shaped supernumerary marker chromosome, in addition to the interstitial deletion 2p. The karyotypes of the child's grandparents were normal. FISH identified the marker which consisted of the proximal region of the p-arm of chromosome 2 including a part of its centromere. The final karyotype was described as 47, xy, del(2)(p11.2p10), + mar de novo. ish der (2)(wcp 2+, D2Z1 +) (ISCN 1995). The rare example shows that our marker chromosome is a part of a balanced karyotype. The father in our case may produce unbalanced offspring and prenatal diagnosis must be recommended.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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