Case Report

Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia

Abstract

Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericentric inversion of Chromosome 9 (p12,q13). Pericentric inversion of Chromosome 9 could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia.

Rao BV, Kerketta L, Korgaonkar S, Ghosh K. Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases. Ind J Hum Genet2006;12:129-32.

Ait-Allah AS, Ming P-ML, Salem HT, Reece EA. Theclinical importance of pericentric inversions of chromosome 9 in prenatal diagnosis. J Matern Fetal Invest. 1997;7:126-128.

Teo SH, Tarn M, Knight L, Ng I. Pericentric inversion 9-incidence and clinical significance. Ann Acad Med Singapore 1995;24:302.

Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, et al . DNA sequence and analysis of human chromosome 9. Nature 2004;429:369-74

Gardner RJ, Sutherland G. In: Chromosomal Abnormalities and Genetic Counseling. 3rd ed. New York: Oxford University Press 2004.

Srebniak M, Wawrzkiewicz A, Wiczkowski A, Kaźmierczak W, Olejek A. Subfertile couple with inv(2),inv(9) and 16qh+. J Appl Genet 2004;45:477-9.

Feingold M, Atkins L. A case of trisomy 9. J Med Genet 1973;10:184-7.

Abu Henedi MM, Mohammed FM, Masoud HA, Abualhasan SJ, Al Awadi SA. Trisomy 9 syndrome in a neonate with unusual feature. Egypt J Med Hum Genet 2009;10.

Jeong SY, Kim BY, Yu JU. De Novo Pericentric inversion of chromosome 9 in congenital anomaly. Yonsei Med J 2010;51:775-80.

Tarani L, Colloridi F, Raguso G, RizzutiA, Bruni L, Tozzi MC, et al. Trisomy 9 mosaicism syndrome. A case report and review of the literature. Ann Genet 1994;37:14-20.

Queisser-Luft A, Stolz G, Wiesel A, Schlaefer K, Spranger JQ. Malformations in newborn: Results basedon 30,940 infants and fetuses from Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet 2002;266:163-65.

Abdalla EM, El-Kharadly RN. Pericentric inversion of chromosome 9 in a consanguineous couple with molar pregnancies and spontaneous abortions. Lab Med Summer 2012;43:212-6.

Solomon BD, Turner CE, Klugman D, Sparks SE. Trisomy 9 mosaicism and XX sex reversal. Am J Med Genet A 2007;143A:2688-91.

Yeo L, Waldron R, Lashley S, Day SalvatoreD, Vintzileos AM. Prenatal sonographic findings associated with nonmosaic trisomy 9 and literature review. J Ultrasound Med 2003;22:425-30.

Kor Anantakul O, Suwanrath C, Kanngurn S, Rujirabanjerd S, SuntharasajT, Pinjaroen S. Prenatal diagnosis of complete trisomy 9: A case report and review of the literature. Am J Perinatol 2006;23:131-5

Baltaci V, Ors R, Kaya M, Balci S. A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? Acta Paediatr 1999;88:579-83.

Sandoval R, Sepulveda W, Gutierrez J,Be C, Altieri E. Prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease. Gynecol. Obstet Invest 1999;48:69-72.

Ashrafzadeh F, Far’aji M. Goldenhar syndrome and pericentric inversion of chromosome 9. Iran J Med Sci 2006;31:118-20

Files
IssueVol 55, No 10 (2017) QRcode
SectionCase Report(s)
Keywords
Pericentric inversion of chromosome 9 Chromosomal structural abnormalities Ambiguous genitalia

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Sotoudeh A, Rostami P, Nakhaeimoghadam M, Mohsenipour R, Rezaei N. Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia. Acta Med Iran. 2017;55(10):655-657.