Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

Molecular Cytogenetics

İlhan Sezgin³  Nejmiye Akkuş³  Volkan Baltacı²  Süleyman Aktuna²  Evrim Ünsal¹  Malik Ejder Yıldırım³  Leyla Özer⁴  Hande Küçük Kurtulgan³ 

[1] Division of Histology and Embryology, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey;Medicine Division of Medical Biology and Genetics, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey;Cumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey;Mikrogen Genetic Diagnosis Center, Cinnah Street 47/1 Çankaya, Ankara, Turkey

关键词: Cardiac defects;    Microcephaly;    14q duplication;    Pericentric inversion of chromosome 14;   

Others  :  1233884
DOI  :  10.1186/s13039-015-0195-7

 received in 2015-07-31, accepted in 2015-11-12,  发布年份 2015

【 摘 要 】

Background

14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet.

Case Presentation

Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation.

Conclusions

Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000 bp)x3.

【 授权许可】

   
2015 Kurtulgan et al.

【 图 表 】

Fig. 1.

Fig. 2.

Fig. 3.

Fig. 4.

【 参考文献 】

• [1]Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling 3th ed. Oxford University Press, New York; 2004.
• [2]Kaiser P, Föster W, Steuernagel P, Hilling U, Herberg K. Familial pericentric inversion (14) (p11 q24) with rec dup(q) in one offsping. Clinical Genetics. 1984; 26:73-76.
• [3]Sgardioli IC, Simioni M, Viguetti-Campos NL, Prota JR, Gil-da-Silva-Lopes VL. A new case of partial 14q31.3—qter trisomy due to maternal pericentric inversion. Gene. 2013; 523:192-194.
• [4]Allderdice PW, And BN, Murphy DP. Chromosome 3 duplication q21-qter deletion p25-pter syndrome in children of carriers of a pericentric inversion inv(3) (p25 q21). Am. J. Hum. Genet. 1975; 27:699-1146.
• [5]Honeywell C, Argiropoulos B, Douglas S, Blumenthal AL, Allanson J, McGowan-Jordan J et al.. Apperent transmission distorsion of pericentric chromosome one inversion in large multigeneration pedigree. Am J Genet A. 2012; 158A:1262-8.
• [6]Hirs B, Baldinger S. Pericentric inversion of chromosome 4 giving rise to dub(4q) recombinants within a single kindred. Am. J. Med. Genet. 1993; 45:5-8.
• [7]Sliuzas V, Utkus A, Kucinska V. Recombinant chromosome 14 due to maternal pericentric inversion. J Apple Genet. 2008; 49(2):205-207.
• [8]Perrin Y, Addor MC, Sekarski N, Gaide AC, Schorderet D. Distal trisomy 14(q24>qter) and aorto- pulmonary window: a case report and review of the literature. Annales de Genetique. 2002; 45:173-175.
• [9]Leach NT, Cole SM, Sanstorm DJ, Weremowicz S. Anovel pericentric inversion of chromosome 14 involving the rRNA cluster. Prenat Diagn. 2005; 25:620-621.
• [10]Thiel Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, et al. A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone, distinct facial anomalies and mild developmental delay. Eur J Med Genet. 2008;51(4):362–7.
• [11]Ariane N, Morteza S. Chromosome Duplication (14q) and The Genotype Phenotype Correlationi. Int J Fertil Steril. 2014; 8(1):95-98.
• [12]Irving MD, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A et al.. Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. Am J Med Genet A. 2010; 152A(8):1942-50.