Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması

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.