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
References
- 1. Wilson MG, Towner JW, Coffin GS, Forsman I. Inherited pericentric inversion of chromosome 4. Am J Hum Genet 1970. 22:679-690.
- 2. Dallapiccola B, Capra L, Preto G, Covic M, Dutrillaux B. Pericentric inversion of chromosome 4:inv (4) (p13,q35) and trisomy of the short branch of chromosome 4 due to recombination aneusomy. Ann Genet 1974. 2:115-118.
- 3. Rethore MO, Dutrillaux B, Job JC, Lejeune J. Trisomy 4p due to recombination aneusomy of an inversion 4 (p14,q35). Ann Genet 1974. 17:109-114.
- 4. Kleczkowska A, Fryns JP, van den Berghe H. Trisomy of the short arm of chromosome 4: The changing phenotype with age. Ann Genet 1992. 35:217-223.
- 5. Hirsch B, Baldinger S. Pericentric inversion of chromosome 4 giving rise to dup (4p), dup(4q) recombinants within a single kindred. Am J Med Genet 1993. 45:5-8.
- 6.Battalgia A, Brothman AR, Carey JC. Recombinant 2 syndrome due to an unbalanced pericentric inversion of chromosome 4. Am J Med Genet 2002. 112:103-106.
- 7. Heras JG, Martin J. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35). Am J Med Genet 2002. 109:226-230.
- 8. Stembalska A, Laczmanska I, Schlade-Barsusiak K, Czemarmazowicz H, Murawski M, Sasiadek M. Recombinant chromosome 4 resulting a maternal pericentric inversion an two sisters presenting consistent dysmorphic features. Eur J Pediatr 2007. 166:67-71.
- 9. Maurin ML, Labrune P, Brisset S, Le Lorc’h M, Pineau D, Castel C, et al. Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion and a recombinant of chromosome 4 pericentric inversion. Am J Med Genet Part A 2009. 149A:226-231.
- 10. Hemmat MX, Hemmat O, Anguiano A, Boyar FZ, Naggar ME, Wang JC, et al. Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review. Mol Cytogenet 2013. 6:17.
- 11. Neckelmann N, Li K, Wade RP, Shuster R, Wallace DC. cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci U S A 1987. 84:7580-7584.
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
References
- 1. Wilson MG, Towner JW, Coffin GS, Forsman I. Inherited pericentric inversion of chromosome 4. Am J Hum Genet 1970. 22:679-690.
- 2. Dallapiccola B, Capra L, Preto G, Covic M, Dutrillaux B. Pericentric inversion of chromosome 4:inv (4) (p13,q35) and trisomy of the short branch of chromosome 4 due to recombination aneusomy. Ann Genet 1974. 2:115-118.
- 3. Rethore MO, Dutrillaux B, Job JC, Lejeune J. Trisomy 4p due to recombination aneusomy of an inversion 4 (p14,q35). Ann Genet 1974. 17:109-114.
- 4. Kleczkowska A, Fryns JP, van den Berghe H. Trisomy of the short arm of chromosome 4: The changing phenotype with age. Ann Genet 1992. 35:217-223.
- 5. Hirsch B, Baldinger S. Pericentric inversion of chromosome 4 giving rise to dup (4p), dup(4q) recombinants within a single kindred. Am J Med Genet 1993. 45:5-8.
- 6.Battalgia A, Brothman AR, Carey JC. Recombinant 2 syndrome due to an unbalanced pericentric inversion of chromosome 4. Am J Med Genet 2002. 112:103-106.
- 7. Heras JG, Martin J. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35). Am J Med Genet 2002. 109:226-230.
- 8. Stembalska A, Laczmanska I, Schlade-Barsusiak K, Czemarmazowicz H, Murawski M, Sasiadek M. Recombinant chromosome 4 resulting a maternal pericentric inversion an two sisters presenting consistent dysmorphic features. Eur J Pediatr 2007. 166:67-71.
- 9. Maurin ML, Labrune P, Brisset S, Le Lorc’h M, Pineau D, Castel C, et al. Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion and a recombinant of chromosome 4 pericentric inversion. Am J Med Genet Part A 2009. 149A:226-231.
- 10. Hemmat MX, Hemmat O, Anguiano A, Boyar FZ, Naggar ME, Wang JC, et al. Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review. Mol Cytogenet 2013. 6:17.
- 11. Neckelmann N, Li K, Wade RP, Shuster R, Wallace DC. cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci U S A 1987. 84:7580-7584.
Details
| Primary Language | English |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Case Report |
| Authors | |
| Publication Date | January 21, 2020 |
| Submission Date | November 15, 2019 |
| Acceptance Date | January 16, 2020 |
| Published in Issue | Year 2020 Volume: 13 Issue: 1 |
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