A case of recombinant chromosome 4: further delineation of the clinical features

Abstract

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.  

Keywords

• Recombinant chromosome 4,de novo

Bir rekombinant kromozom 4 olgusunun klinik özelliklerinin ayrıntılı tanımlanması

Abstract

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. 

Keywords

• de novo,Rekombinant kromozom 4,Mikroarray

References

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