Yıl 2020, Cilt 13 , Sayı 1, Sayfalar 229 - 234 2020-01-21

Bir rekombinant kromozom 4 olgusunun klinik özelliklerinin ayrıntılı tanımlanması
A case of recombinant chromosome 4: further delineation of the clinical features

Özlem ANLAŞ [1] , Gökhan Ozan ÇETİN [2] , Kanay YARARBAŞ [3] , Füsun DÜZCAN [4] , Cavidan Nur SEMERCİ GÜNDÜZ [5] , Akif AYAZ [6] , Gülseren BAĞCI [7]


Rekombinant kromozom 4, nadir görülen yapısal bir kromozomal anomalidir. Literatürde bugüne kadar on bir vaka bildirilmiştir. Bu yazıda 5 yaşında de novo rec(4)dup(4p)del(4q) karyotipine sahip bir erkek hasta bildirilmiştir. Hastanın fizik muayene bulguları; kaput kuadratum, yassı oksiput, düşük frontal saç çizgisi, hipertelorizm, pitozis, blefarofimozis, yüksek kemerli kaşlar, antevert burun delikleri ile düz burun kökü, kısa burun, uzun ve pürüzsüz filtrum, üçgen ince üst dudak, yüksek damak, diş anomalileri, geniş, düşük kulaklı kulaklar, kısa boyun, ayrık meme uçları, mikropenis, kriptorşidizm şeklinde sıralanmaktadır. Konvansiyonel sitogenetik analiz sonucunda 46,XY,rec(4)dup(4p14p16.3)del(4q34.3q35) karyotipi saptanmıştır. 4p ve 4q kromozomal bölgelerine spesifik subtelomerik problarla yapılan floresan in-situ hibridizasyon (FISH) analizi sonucunda rekombinant kromozom 4'te, 4p duplikasyonu ve 4q delesyonu saptanmıştır. Hastanın son karyotipi 46,XY,rec(4)dup (4p16.3p14)del(4q34.4q35).arr[hg19] 4p16.3p14 (68.345-36.018) x3,4q34.3q35 (177,676,319-190,957,460) olarak rapor edilmiştir. Literatürde bildirilen tüm rekombinant kromozom 4 olguları benzer klinik bulgulara sahiptir. Bizim olgumuz dışında literatürde sadece bir olgunun de novo olduğu bildirilmiştir. Sonuç olarak, bu yazıda literatürdeki en büyük delesyon ve duplikasyona sahip nadir bir rekombinant kromozom 4 olgusu bildirilmştir. 

Recombinant chromosome 4 is a very rare chromosomal aberration with eleven cases reported in the literature up to date. Here we report a five years old male patient with de novo rec(4) dup(4p) del(4q). The physical examination findings were as follows: caput quadratum, flat occiput, low frontal hairline, hypertelorism, ptosis, blepharophimosis, high arched eyebrows, flat nasal root with antevert nostrils and short nose, long and smooth philtrum, thin upper lip with triangular mouth, high arched palate, dental anomalies, large low-set ears, short neck, broad chest with widely spaced nipples, micropenis, cryptorchidism. Conventional cytogenetic analysis revealed the karyotype as 46,XY,rec(4)dup(4p14p16.3)del(4q34.3q35). Flourescence in-situ hybridization (FISH) analysis with sub-telomeric probes for 4p and 4q showed duplication of 4p and deletion of 4q in recombinant chromosome 4. His parents’ chromosomal analysis and sub-telomeric FISH analysis were both normal. The patient’s final karyotype was reported as 46,XY,rec(4)dup(4p16.3p14)del(4q34.4q35).arr[hg19]4p16.3p14(68,345-36,018)x3,4q34.3q35(177,676,319-190,957,460)x1 detected by Microarray. According the literature all cases with recombinant chromosome 4 have similar clinical findings. Except for our case only one case in the literature has been reported to be de novo. In conclusion, we reported a very rare case of recombinant chromosome 4, which has the largest deletion and duplication in the literature. Further cases with similar findings would help delineation of the symptoms related to the aberration.  

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Birincil Dil en
Konular Tıp
Yayımlanma Tarihi Ocak 2020
Bölüm Olgu Sunumu
Yazarlar

Orcid: 0000-0002-2861-1693
Yazar: Özlem ANLAŞ (Sorumlu Yazar)
Kurum: Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey
Ülke: Turkey


Orcid: 0000-0002-6100-7973
Yazar: Gökhan Ozan ÇETİN
Kurum: Medical School of Pamukkale University, Department of Medical Genetics, Denizli
Ülke: Turkey


Orcid: 0000-0002-5314-3406
Yazar: Kanay YARARBAŞ
Kurum: Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University Faculty of Medicine, Istanbul, Turkey

Orcid: 0000-0002-3973-1304
Yazar: Füsun DÜZCAN
Kurum: Department of Medical Genetics, İzmir Tınaztepe University, Izmir, Turkey

Orcid: 0000-0001-5287-8526
Yazar: Cavidan Nur SEMERCİ GÜNDÜZ
Kurum: Department of Medical Genetics, School of Medicine, Yıldırım Beyazit University, Ankara, Turkey

Orcid: 0000-0001-6930-7148
Yazar: Akif AYAZ
Kurum: Department of Medical Genetics, Istanbul Medipol University, Istanbul, Turkey.

Orcid: 0000-0003-0110-2521
Yazar: Gülseren BAĞCI
Kurum: Department of Medical Genetics, Medical School of Pamukkale University, Denizli, Turkey

Tarihler

Yayımlanma Tarihi : 21 Ocak 2020

Bibtex @olgu sunumu { patd644602, journal = {Pamukkale Tıp Dergisi}, issn = {}, eissn = {1308-0865}, address = {Pamukkale Üniversitesi Tıp Fakültesi Eğitim Blokları Kınıklı kampüsü 20070 Kınıklı, Denizli}, publisher = {Pamukkale Üniversitesi}, year = {2020}, volume = {13}, pages = {229 - 234}, doi = {10.31362/patd.644602}, title = {A case of recombinant chromosome 4: further delineation of the clinical features}, key = {cite}, author = {ANLAŞ, Özlem and ÇETİN, Gökhan Ozan and YARARBAŞ, Kanay and DÜZCAN, Füsun and SEMERCİ GÜNDÜZ, Cavidan Nur and AYAZ, Akif and BAĞCI, Gülseren} }
APA ANLAŞ, Ö , ÇETİN, G , YARARBAŞ, K , DÜZCAN, F , SEMERCİ GÜNDÜZ, C , AYAZ, A , BAĞCI, G . (2020). A case of recombinant chromosome 4: further delineation of the clinical features. Pamukkale Tıp Dergisi , 13 (1) , 229-234 . DOI: 10.31362/patd.644602
MLA ANLAŞ, Ö , ÇETİN, G , YARARBAŞ, K , DÜZCAN, F , SEMERCİ GÜNDÜZ, C , AYAZ, A , BAĞCI, G . "A case of recombinant chromosome 4: further delineation of the clinical features". Pamukkale Tıp Dergisi 13 (2020 ): 229-234 <https://dergipark.org.tr/tr/pub/patd/issue/51998/644602>
Chicago ANLAŞ, Ö , ÇETİN, G , YARARBAŞ, K , DÜZCAN, F , SEMERCİ GÜNDÜZ, C , AYAZ, A , BAĞCI, G . "A case of recombinant chromosome 4: further delineation of the clinical features". Pamukkale Tıp Dergisi 13 (2020 ): 229-234
RIS TY - JOUR T1 - A case of recombinant chromosome 4: further delineation of the clinical features AU - Özlem ANLAŞ , Gökhan Ozan ÇETİN , Kanay YARARBAŞ , Füsun DÜZCAN , Cavidan Nur SEMERCİ GÜNDÜZ , Akif AYAZ , Gülseren BAĞCI Y1 - 2020 PY - 2020 N1 - doi: 10.31362/patd.644602 DO - 10.31362/patd.644602 T2 - Pamukkale Tıp Dergisi JF - Journal JO - JOR SP - 229 EP - 234 VL - 13 IS - 1 SN - -1308-0865 M3 - doi: 10.31362/patd.644602 UR - https://doi.org/10.31362/patd.644602 Y2 - 2020 ER -
EndNote %0 Pamukkale Tıp Dergisi A case of recombinant chromosome 4: further delineation of the clinical features %A Özlem ANLAŞ , Gökhan Ozan ÇETİN , Kanay YARARBAŞ , Füsun DÜZCAN , Cavidan Nur SEMERCİ GÜNDÜZ , Akif AYAZ , Gülseren BAĞCI %T A case of recombinant chromosome 4: further delineation of the clinical features %D 2020 %J Pamukkale Tıp Dergisi %P -1308-0865 %V 13 %N 1 %R doi: 10.31362/patd.644602 %U 10.31362/patd.644602
ISNAD ANLAŞ, Özlem , ÇETİN, Gökhan Ozan , YARARBAŞ, Kanay , DÜZCAN, Füsun , SEMERCİ GÜNDÜZ, Cavidan Nur , AYAZ, Akif , BAĞCI, Gülseren . "A case of recombinant chromosome 4: further delineation of the clinical features". Pamukkale Tıp Dergisi 13 / 1 (Ocak 2020): 229-234 . https://doi.org/10.31362/patd.644602
AMA ANLAŞ Ö , ÇETİN G , YARARBAŞ K , DÜZCAN F , SEMERCİ GÜNDÜZ C , AYAZ A , BAĞCI G . A case of recombinant chromosome 4: further delineation of the clinical features. Pamukkale Tıp Dergisi. 2020; 13(1): 229-234.
Vancouver ANLAŞ Ö , ÇETİN G , YARARBAŞ K , DÜZCAN F , SEMERCİ GÜNDÜZ C , AYAZ A , BAĞCI G . A case of recombinant chromosome 4: further delineation of the clinical features. Pamukkale Tıp Dergisi. 2020; 13(1): 234-229.