Show simple item record

dc.contributor.authorDeniz, E
dc.contributor.authorYeşil , Gözde
dc.contributor.authorDemir, Ümit
dc.contributor.authorGüngörmüş, Sevil
dc.contributor.authorToksoy, Güven
dc.contributor.authorSayar, Ceyhan
dc.contributor.authorTürköver, Bilgen Bilge
dc.contributor.authorDuman, Nilgün
dc.date.accessioned2021-03-02T22:58:35Z
dc.date.available2021-03-02T22:58:35Z
dc.identifier.citationYeşil G., Sayar C., Toksoy G., Türköver B. B. , Duman N., Demir Ü., Güngörmüş S., Deniz E., "A Case Report With A Rare 8p Duplication", 9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, sa.1, ss.37
dc.identifier.otherav_0fbb70a5-a055-4eb9-9ca6-93e666d991a3
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/16111
dc.description.abstractDuplications can occur by unequal crossing over or by abnormalsegregation in meiosis in a translocation or an inversioncarrier. In general duplications appear to be much less harmfulthan deletions. A 7-year-old patient who was born to nonconsanguinesparents; was referred to us from pediatric neurologyunit due to developmental delay and dysmorphism. Thepregnancy was complicated with gestational diabetes and polyhydramniosis.The physical examination revealed no growthdelay but hypertonicity on lower extremities and dysmorphism.The X-ray’s showed spina bifida. The congenitalabsence of gallbladder was detected by ultrasound. TheGiemsa stained karyotyping by high resolution banding techniqueand also FISH analysis showed 46,XY,der(8)ishdup(8)(p21-?)(wcp8+) chromosome constitution de novo. Inthis report we discussed the similarity and differences of thephenotypes between the present and previously reportedpatients with dup (8).
dc.language.isotur
dc.subjectPEDİATRİ
dc.subjectGENETİK VE HAYAT
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectPediatrik Nöroloji
dc.subjectTıbbi Genetik
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectKlinik Tıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKlinik Tıp (MED)
dc.subjectTIP, GENEL & İÇECEK
dc.titleA Case Report With A Rare 8p Duplication
dc.typeBildiri
dc.contributor.department, ,
dc.identifier.volume78
dc.contributor.firstauthorID1041598


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record