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AJP Rep 2011; 01(01): 029-032
DOI: 10.1055/s-0031-1274512
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

Pietro Cignini
1   “Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
,
Angela Dinatale
2   Operative Unit of Obstetrics and Gynecology, Policlinico Universitario “G. Martino,” Messina
,
Laura D'Emidio
1   “Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
,
Annamaria Giacobbe
2   Operative Unit of Obstetrics and Gynecology, Policlinico Universitario “G. Martino,” Messina
,
Elisa Maria Pappalardo
3   Department of Gynaecology and Obstetrics, ARNAS, Garibaldi Nesima Hospital, Catania
,
Santina Ermito
1   “Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
,
Domenico Bizzoco
4   Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
,
Gianluca Di Giacomo
4   Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
,
Ivan Gabrielli
4   Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
,
Alvaro Mesoraca
4   Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
,
Maurizio Giorlandino
1   “Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
,
Claudio Giorlandino
1   “Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
› Author Affiliations
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Publication History

Publication Date:
18 March 2011 (online)

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Abstract

A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16)] and array comparative genomic hybridization (a-CGH) demonstrated that the ring included the euchromatic portion 16p11.2. Postmortem examination confirmed prenatal findings. This is the first case of de novo ring chromosome 16 diagnosed prenatally with a new phenotypic pattern and also reinforces the importance of offering amniocentesis with a-CGH if fetal anomalies are detected.

Keywords

Ring chromosome - supernumerary-chromosome - fetal anomalies
 

  • References

  • 1 Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 2007; 19: 719-731
    PubMedGoogle Scholar
  • 2 Kosztolányi G. Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 1987; 75: 174-179
    CrossrefPubMedGoogle Scholar
  • 3 Vianello MG, Cottafava F, Bartoli D, Franzone G, Casazzava R, Gastaldi R. Ring chromosome 16: a new case. Ann Genet 1990; 33: 36-39
    PubMedGoogle Scholar
  • 4 He W, Tuck-Muller CM, Martínez JE, Li S, Rowley ER, Wertelecki W. Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts. Am J Med Genet 2002; 107: 12-17
    CrossrefPubMedGoogle Scholar
  • 5 Callera F, Lopes CO, Rosa ES, Mulin CC. Adult transitional pre-B acute lymphoblastic leukemia associated with ring chromosome 16. Cancer Genet Cytogenet 2008; 183: 131-132
    CrossrefPubMedGoogle Scholar
  • 6 Quintana A, Sordo MT, Estevez C, Ludena MC, San Marino C. 16 ring chromosome. Clin Genet 1983; 23: 243-
    PubMedGoogle Scholar
  • 7 Pergament E, Pietra GC, Kadotani T, Sato H, Berlow S. A ring chromosome No. 16 in an infant with primary hypoparathyroidism. J Pediatr 1970; 76: 745-751
    CrossrefPubMedGoogle Scholar
  • 8 Neidengard L, Sparkes RS. Ring chromosome 16. Hum Genet 1981; 59: 175-177
    CrossrefPubMedGoogle Scholar
  • 9 Krauss CM, Caldwell D, Atkins L. Interstitial deletion and ring chromosome derived from 16q. J Med Genet 1987; 24: 308-312
    CrossrefPubMedGoogle Scholar
  • 10 Chodirker BN, Ray M, McAlpine PJ , et al. Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16. Am J Med Genet 1988; 31: 145-151
    CrossrefPubMedGoogle Scholar
  • 11 Conte RA, Kleyman SM, Kharode C, Verma RS. Delineation of a ring chromosome 16 by the FISH-technique: a case report with review. Clin Genet 1997; 51: 196-199
    PubMedGoogle Scholar
  • 12 Melo JB, Matoso E, Polityko A , et al. Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation. Cytogenet Genome Res 2009; 125: 109-114
    CrossrefPubMedGoogle Scholar
  • 13 Bedoyan JK, Kumar RA, Sudi J , et al. Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet A 2010; 152A: 1567-1574
    PubMedGoogle Scholar