Author/Editor		Zagorac, A; Kokalj-Vokač, N; Medica, I
Title		Parcialna trisomija končnega dela dolgega kraka kromosoma 10: prikaz primera
Translated title		A case of partial trisomy 10qter
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. Suppl 1
Publication year		2000
Volume		str. 107-9
Language		slo
Abstract		We report on a 10-year old boy referred to our laboratory because of developmental and speech delay. He has minor anomalies of the face: a wide nasal root, epicanthal folds, antimongoloid slant, narrow palpebral fissures, microretrognathia and a bow shaped mouth. No major malformations were found. His psychological evaluation revealed mild mental retardation (I.Q.=70). Analysis of his chromosomes demonstrated additional material of unknown origin on chromosome 21. His parents have normal karyotypes. FISH analysis using Cytocell's Chromoprobe Multiprobe System detected a chromosome 10 specific painting probe on the terminal end of the long arm of chromosome 21. After comparing the bands of chromosome 10 and der(21 ), the karyotype 46, XY, der(21) t(10;21)(q25.2;q22.3) was suggested. Using Cytocell telomeric probes specific for chromosomes 21 and 10, the rearrangement was confirmed. The phenotype findings compared to previously published cases corresponded to trisomy 10qter syndrome.
Summary		Prikazujemo primer dečka s parcialno trisomijo 10qter de novo. V naš laboratorij je bil poslan na preiskave zaradi zaostajanja v razvoju in govoru. Pri dečku so opazne tudi manjše nepravilnosti na obrazu: široko narastišče nosa, epikantus, antimongoloidno postavljene oči, ozke očesne reže, mikro-retrognatija in usta okrogle oblike. Psihološka testiranja so pokazala zmerno mentalno retardacijo (I.Q.=70). Analiza kromosomov pri bolnikuje pokazala navzočnost dodatnega genetskega materiala neznanega izvora na dolgem kraku kromosoma 21. Oba starša imata normalen kariotip. Z metodo FISH in uporabo Cytocell-ove DNA-sonde za barvanje vseh kromosomov hkrati smo ugotovili, da je dodatni genetski material na derivativnem kromosomu 21 del kromosoma 10. S primerjavo prog na kromosomu 10 in na derivativnem kromosomu 21 smo določili kariotip bolnika 46,XY,der(21)t(10;21)(q25.2;q22.3). Z uporabo subtelomernih prob, specifičnih za kromosoma 10 in 21, smo potrdili kromosomsko preureditev. Fenotip bolnika se ujema z ostalimi opisanimi primeri bolnikov s trisomijo 10qter.
Descriptors		CHROMOSOMES, HUMAN, PAIR 10 TRISOMY CHILD IN SITU HYBRIDIZATION, FLUORESCENCE KARYOTYPING MENTAL RETARDATION