Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

Karaman, A; Karaman, B; Çetinkaya, A; Karaman, S; Demirci, O

doi:10.2478/bjmg-2020-0014

Abstract

A 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

References

De Grouchy J, Lamy M, Theffry S, Arthuis M, Salmon C. Dysmorphic complex with oligophrenia: Deletion of short arms of a chromosome 17-18. Comptes Rendus de l’Académie des Sciences (Paris). 1963; 257(6): 3098-3102.
Search in Google Scholar Back to article
Goh DL, Tan AS, Chen JY, van den Berghe JA. Dysmorphic sibs trisomic for the region 6q22.11?6q23.3. J Med Genet. 2000: 37(11): 889-892.
Search in Google Scholar Back to article
Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS. Partial duplication of the long arm of chromosome 6: A clinically recognizable syndrome. J Med Genet. 1990; 27(8): 523-526.
Search in Google Scholar Back to article
Wester U, Bondeson M-L, Edeby C, Anneren G. Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation. Am J Med Genet A. 2006; 140A(11): 1164-1171.
Search in Google Scholar Back to article
Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, et al. A review of 18p deletions. Am J Med Genet C Semin Med Genet. 2015; 169(3): 251-264.
Search in Google Scholar Back to article
Graziadio C, Rosa RFM, Zen PRG, Pinto LL, de C, Barea LM, Paskulin GA. Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion. Arq Neuropsiquiatr. 2009; 67(3A): 689-691.
Search in Google Scholar Back to article
Postma AG, Verschuuren-Bemelmans CC, Kok K, van Laar T. Characteristics of dystonia in the 18p deletion syndrome, including anew case. Clin Neurol Neurosurg. 2009; 111(10): 880-882.
Search in Google Scholar Back to article
Kowarik MC, Langer S, Keri C, Hemmer B, Oexle K, Winkelmann J. Myoclonus-dystonia in 18p deletion syndrome. Mov Disord. 2011; 26(3): 560-561.
Search in Google Scholar Back to article
Weckseiblatt B, Rudd MK. Human structural variation: mechanisms of chromosome rearrangements. Trends Genet. 2015; 31(10): 587-599.
Search in Google Scholar Back to article
Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet. 2011; 20(10): 1916-1924.
Search in Google Scholar Back to article
Liu P, Erez A, Nagamani SC, Dhar SU, Kolod-ziejska KE, Dharmadhikari AV, et al. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011; 146(6): 889-903.
Search in Google Scholar Back to article
Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, et al. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomo-logous repair mechanisms. Cell Rep. 2012; 1(6): 648-655.
Search in Google Scholar Back to article
Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017; 18(1): 1158-1166.
Search in Google Scholar Back to article
Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, et al. An organismal CNV mutator phenotype restricted to early human development. Cell. 2017; 168(5): 830-842.
Search in Google Scholar Back to article
Iafrate AJ, Feuk L, RiveraMN, Listewnik ML, Donahoe PK, Qi Y, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004; 36(9): 949-951.
Search in Google Scholar Back to article
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, et al. Large-scale copy number polymorphism in the human genome. Science. 2004; 305(5683): 525-528.
Search in Google Scholar Back to article
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature. 2006; 444(7118): 444-454.
Search in Google Scholar Back to article
Hurles ME, Dermitzakis ET, Tyler-Smith C. The functional impact of structural variation in humans. Trends Genet. 2008; 24(5): 238-245.
Search in Google Scholar Back to article
Kulharya AS, Carlin ME, Stettler RW, Huslig M, Kukolich MK, Garcia-Heras J. Prenatal diagnosis of a de novo trisomy 6q22.2-6qter and monosomy Ipter➝1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q. Clin Genet. 1997; 51(2): 115-117.
Search in Google Scholar Back to article
Brenk CH, Prott E-C, Trost D, Hoischen A, Walldorf C, Radiwimmer B, et al. Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridization and fluorescent in situ hybridization. Eur J Hum Genet. 2006; 15(1): 35-44.
Search in Google Scholar Back to article
Bangma M, Lunshof S, Opstal DV, Galjaard RJ. Prenatal diagnosis of alobar holoprosencephaly (HPE), cyclopia, proboscis, and isochromosome 18q in the second trimester. Am J Perinatal Rep. 2011 ; 1(2): 73-76.
Search in Google Scholar Back to article
Esposito F, Addor MC, Humm AM, Vingerhoets F, Wider C. GNAL deletion as a probable cause of dystonia in a patient with the 18p-syndrome. Park Relat Disord. 2014; 20(3): 351-352.
Search in Google Scholar Back to article
Recalcati MP, Valtorta E, Romitti L, Giardino D, Manfredini E, Vaccari R, et al. Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits. Eur J Med Genet. 2010; 53(4): 186-191.
Search in Google Scholar Back to article
Wapner RJ, Martin CL, Levy B, Ballif BC. Eng M, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012; 367(23): 2175-2184.
Search in Google Scholar Back to article
Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013; 41(6): 610-620.
Search in Google Scholar Back to article
Yatsenko SA, Davis S, Hendrix NW, Surti U, Emery E, Canavan T, et al. Application of chromosomal mi-croarray in the evaluation of abnormal prenatal findings. Clin Genet. 2013; 84(1): 47-54.
Search in Google Scholar Back to article

Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

Abstract

Paradigm

My account