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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report. | Fernández-Toral et al. Journal of Medical Case Reports 2010 4 239 http www.jmedicalcasereports.eom content 4 1 239 jAg JOURNALOF medical ÌỤr case REPORTS CASE REPORT Open Access Four small supernumerary marker chromosomes derived from chromosomes 6 8 11 and 12 in a patient with minimal clinical abnormalities a case report lifi Pam á nrl civ-Tr irT I1 I I IK3 Pz- iH rfn I IQ72 A m Dhrnnrtro3 l bm I I lio Í Ì2 rbínoT-PrÍTỉc4 PIÍC2 hoth P A orc5 Jodquin Feindndez loidl Lduid nodiiguez And rldsencid Mdiid Luisd Mdiunez Fiids Llisdbeui Eweis Ahmed B Hdmid5 Monikd Zieglei5 Thomds Liehi5 Abstract Introduction Smdll supeinumeidiy mdikei chromosomes die still d problem in cytogenetic didgnostic dnd genetic counseling. This holds especidlly tiue foi the rate cdses with multiple smdll supernumera mdtket chromosomes. Most such cdses die iepoited to be clinicdlly seveiely dffected due to the chiomosomdl imbdldnces induced by the piesence of smdll supeinumeidiy mdikei chromosomes. Heie we iepoit the fiist cdse of d pdtient hdving foui different smdll supeinumeidiy mdikei chromosomes which dpdit fiom slight developmentdl ietdiddtion in youth dnd non-mdligndnt hypeipigmentdtion presented no othei clinicdl signs. Case presentation Oui pdtient wds d 30-yedi-old Cducdsidn mdn delivered by cdesdiedn section becduse of mdciosomy. At biith he presented with bildteidl ciyptoichidism but no othei biith defects. At dge of diound two yedis he showed psychomotoi deldy dnd d bildteidl conveigent stidbismus. Ldtei he hdd slight ledining difficulties with noimdl socidl behdvioi dnd now lives dn independent life ds dn ddult. Apdit fiom hypogenitdlism he hds multiple hypeipigmented nevi dll ovei his body shoit feet with pes cdvus dnd cldw toes. At dge of 30 yedis cytogenetic dnd moleculdi cytogenetic dndlysis ievedled d kdiyotype of 50 XY min 6 p11.1- q11.1 min 8 p11.1- q11.1 min 11 p11.11- q11 min 12 p11.2 12- q10 ledding oveidll to d smdll pditidl tiisomy in 12p11.1 12.1. Conclusions Including
