Naslov
Proximal 6p trisomy due to unbalanced (X ; 6) translocation: clinical and cytogenetic characterization

Autori
Petković, Iskra ; Barišić, Ingeborg ; Lasan, Ružica

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

Izvornik
30th Annual Meeting of the European Society of Human Genetics - Lisabon, Portugal - 10-13 May 1998 - Final Programme and Abstracts. European Journal of Human Genetics. 6(Suppl 1), 1998 / - , 1998

Skup
30th Annual Meeting of the European Society of Human Genetics

Mjesto i datum
Lisabon, Portugal, 10.05.1998. - 13.05.1998

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
6p trisomy; unbalanced translocation

Sažetak
Proximal 6p trisomies comprising the whole arm of chromosome 6 are exceedingly rare, only two cases being described in a live born infant to date. We describe an 23 month-old girl with proximal partial trisomy 6p11.2(r)pter and partial monosomy Xq23(r)ter as a result of unbalanced translocation (6 ; S9(P11.2-q23). She presented with short stature, failure to thrive and moderate mental retardation. The associated phenotype is compared with other reported cases of dup 6 involving adjacent regions. Although trisomic for the whole short arm of chromosome 6, she had only discrete facial dysmorphism characteristic of partial trisomy 6p and no associated malformations or abnormalities of visceral organs. She had subclass IgG deficiency which was not described previously in trisomy 6p patients. The abnormal phenotype of the patient is discussed in relation to the observed X-inactivation patterns in lymphocytes and skin fibroblasts and the variability of the patterns in different tissue.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA