Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
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V-Pos-8 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 211<br />
Subotica, 30. novembar - 4. decembar 2004.<br />
TRANSLOKACIONI OBLIK DAUNOVOG SINDROMA (PRIKAZ SLUÈAJA)<br />
I. Kaveèan, J. Jovanoviæ-Privrodski, M. Obrenoviæ i Lj. Gaæina<br />
Daunov sindrom, najèešæe se javlja u klasiènoj formi u oko 95% sluèajeva,<br />
translokacijski tip se javlja u uèestalosti u 4-5%, a mozaièni tip 1-2%. Na hromozomu 21<br />
nalazi se region pod nazivom «Daun kritièni region», lokalizovan na 21q22.1-q22.3,<br />
odgovaran za fenotipske karakteristike Daunovog sindroma. Mozaièni tip Daunovog<br />
sindroma nastaje postzigotièno, i u tom sluèaju su slabije izraene fenotipske<br />
karakteristike Daunovog sindroma.<br />
Prikaz sluèaja: drugo dete iz pete nekontrolisane trudnoæe 41- godišnje majke (1. zdravo<br />
dete, 3 spontana pobaèaja). Po roðenju, uoèene fenotipske karakteristike Daunovog<br />
sindroma: koso postavljeni oèni otvori, hipertelorizam, epikantusi, širok koren nosa,<br />
nosni otvori okrenuti put napred, uške loše modelirane, asimetriène, usne tanke, nepce<br />
višlje postavljeno, blag pectus infundibuliforme, klinodaktilija V prsta na rukama,<br />
sandalske brazde na stopalima, nie postavljen umbilikus, izraena hipotonija, atrezija<br />
anusa (hirurški korigovana), uroðena srèana mana (trikuspidna regurgitacija, mitralna<br />
regurgitacija, ductus arteriosus). Minor malformacioni skor: 6 Kariotip deteta:<br />
46,XY,-21,+t(q21;q21)– translokacijski tip Daunovog sindroma.<br />
Obzirom da se radi o translokacijskom tipu Daunovog sindroma kod deteta, uraðen je<br />
kariotip roditeljima. Majka se leèi na Klinici za psihijatriju, završila osnovnu školu,<br />
domaæica. Do roðenja deteta nije upuæivana kod genetièara. Kariotip majke:<br />
46,XX/46,XX,-21,+t(q21;q21) 98:2, mozaièna forma Daunovog sindroma, nebalansirana<br />
translokacija, u procentu od 2%.<br />
U ovom sluèaju, majka ima nebalansiranu translokaciju i mali procenat æelija (2%) sa<br />
translokacionim oblikom Daunovog sindroma, što predstavlja redak oblik hromozomske<br />
aberacije.<br />
DOWN SYNDROME: TRANSLOCATION TYPE (CASE REPORT)<br />
Downs syndrome (DS) appears as 21. chromosome trisomy (95% cases), translocation<br />
type (4-5% cases) and mosaic type (1-2% cases). Part of 21. chromosome that deals with<br />
phenotypic features of Down syndrome is called «Down Critical Region» (DCR).<br />
DCR is located on 21q22.1-22.3. Mosaic type appears postzygoticaly and phenotypic<br />
features are weaker.<br />
Case Report: second child from fifth non-controlled pregnancy (1 healthy child, 3 miscarriages),<br />
mothers age is 41. Phenotypic features of Down Syndrome on birth: slanted<br />
palpebral fissures, hipertelorism, epicantic folds, flattened nasal root, anteverted nostrils,<br />
abnormal auricles, asymmetric auricles, thin lips, high palate, mild pectus excavatum, 5th<br />
finger clinodactyly on hands, plantar crease between 1st and 2nd toes, distally displaced<br />
umbilicus, serious hipotony, imporferated anus (surgically corrigated), congenital heart<br />
disease (tricuspidal regurgation, mitral regurgation, ductus arteriosus). Minor malformation<br />
score: six. Kariotype: 46, XY, -21, +t(q21;q21).<br />
Since translocation type is estimated, parents kariotypes were done. Mother is hospitalized<br />
on Psychiatry, elementary school, and housewife. First genetic counsel was done after<br />
this child had been born. Mothers kariotype: 46, XX/ 46,XX, -21, +t(q21;q21), 98 versus<br />
2 analyzed cells. This is mosaic form of Down syndrome with unbalanced<br />
translocation in 2%.<br />
In this case mother has nonbalanced translocation and low percent (2% cells) with<br />
translocation type of Down Syndrome versus child who has 100% translocation type.<br />
Both cases are rare.