Naslov
De novo case of 3p deletion syndrome

Autori
Škrlec, Ivana ; Wagner, Jasenka ; Merkeš, Martina ; Pušeljić, Silvija ; Heffer, Marija ; Brečević, Lukrecija ; Liehr, Thomas

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

Izvornik
Chromosome Research / - , 2013, S47-S47

Skup
9th European cytogenetics conference

Mjesto i datum
Dublin, Irska, 29.06.2013. - 02.07.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
3p deletion

Sažetak
The 3p deletion syndrome is a rare disorder caused by deletions of different sizes in the 3p25-pter region. Causal deletions in the distal 3p arm vary from small, interstitial deletions to large terminal deletions of several megabases with variable proximal breakpoints. Most cases occur de novo, but a few familial cases have been reported. The phenotype of individuals with deletions varies from normal to severe. Characteristic features of the syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, mental and growth retardation, ptosis, and micrognathia. Other features that may be seen include polydactyly, renal anomalies, congenital heart defects (CHD), ear anomalies, and gastrointestinal tract anomalies. There also appears to be an absence of imprinting effects, since similar clinical profiles have been reported for the deleted 3p25 chromosomes from both paternal and maternal origin. Here we present clinical and cytogenetic findings in a 9-month old boy with a monosomy for the distal part of the short arm of chromosome 3. He is the first child of healthy, non-consanguineous parents. Chromosomal analysis showed 46, XY, del(3)(p25--pter)dn. Screening by multiplex–ligation–dependent probe amplification method (kit SALSA P036-E1, MRC HOLLAND) was used for subtelomeric analysis, multicolor banding (MCB3) and fluorescent in situ hybridization analysis (TelVysion 3p Spectrum Green - D3S4559, TelVysion 3q Spectrum Orange - D3S4560, Vysis, Abbott Molecular) was subsequently used as confirmation method. Both parents had normal karyotypes. No family history of congenital anomalies or mental retardation was referred. We have compared similarity of the clinical features of our patient to other patients carrying a deletion of distal part of 3p as described in the literature. The variable penetrance of 3p deletions creates challenges in genetic counseling, as the phenotype of the offspring cannot be predicted based on chromosomal and/or genome-wide array analytical findings

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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