A case with de novo t(4;22) in addition to maternal inv 9

Abstract

A 8- mounth- old girl was referred to our laboratory because of Down Syndrome. She had had phenotypical features as mild mental retardation, flated nasal bridge, low- set and malformed ears. In detailed family history, her mother had had an carbon monoxide poisoning during proband's pregnancy and an abortus before her. Chromosome analysis was carried on peripheral blood Iymphocytes culture, using standart techniques and chromosomes were identified by using GTG, C and NOR- banding. Her karyotype was found to be 46,XX,t(4q;22q), inv(9). Family studies were showed that neither her mother nor her father had carried this translocation but inv(9) was inherited from her mother to our patient. Our patient who seems as though a de novo balanced translocation carrier was discussed under the light of literature with her biochemical, radiologic and clinic features.

Özet

Down Sendromu ön tanisi ile laboratuvarimiza gönderilen 8 aylik kiz hastamizda mental retardasyon ile burun kökünün basik olmasi ve düsük- malforme kulaklarin da eslik ettigi dismorfik yüz görünümü vardi. Alinan aile hikayesinde annenin daha önce bir düsügünün olmasi ve hastamiza hamile iken 8. ayda geçirdigi karbon monoksit zehirlenmesi disinda önemli bir özellik yoktu. Yapilan sitogenetik analizde hastamizin kromozom kurulusunun 46,XX,t(4;22),inv(9) oldugu görüldü. Aile çalismalarinda anne ve babanin bu translokasyonu tasimadigi, ancak inv(9)'un anneden kalitildigi tesbit edildi. Görünürde de nova dengeli translokasyon tasiyicisi olan hastamizin biyokimyasal, radyolojik ve klinik bulgulari literatür isiginda tartisildi.

Keywords: Translokasyon (genetik),Karbonmonoksit,Karbonmonoksit zehirlenmesi,Kromozomlar,Down sendromu,Zeka geriliği,Zehirlenme