Report of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Patients with mosaicism survive longer than non-mosaics, but it was believed that the degree of mosaicism in lymphocytes or fibroblasts does not associate with survival or degree of impairment. In this report, we present a 2.5-year-old male case of mosaic trisomy 9, to show the wide range of clinical findings in this chromosome disorder. The patient had cardiac anomalies, inguinal hernia, and undescendent testes. He had low-set slightly malformed ears, deeply-set malformed eyes, small palpebral fissures, micrognathia, developmental delay and unilateral optic hypoplasia. The most prominent facial anomaly in this patient was eye anomalies. Cytogenetic analysis with G banding showed karyotype 47XY,+9 in 44% of peripheral lymphocytes examined (47XY,+9, 46XY). His parents’ karyotypes were normal. Moderate developmental delay, which was detected in this patient shows that the range of motor and cognitive impairment in this chromosomal disorder is quite broad. This fact should be considered in genetic counseling as well as prenatal diagnosis of this chromosomal disorder.
Cantu ES, Eicher DJ, Pai GS, Donahue CJ, Harley RA. Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet. 1996;62:330-5. doi: 10.1002/(SICI)1096-8628(19960424)62:4<330::AID-AJMG1>3.0.CO;2-V. PubMed PMID: 8723059.
Arnold GL, Kirby RS, Stern TP, Sawyer JR. Trisomy 9: review and report of two new cases. Am J Med Genet. 1995;56:252-7. doi: 10.1002/ajmg.1320560303. PubMed PMID: 7778584.
Tarani L, Colloridi F, Raguso G, Rizzuti A, Bruni L, Tozzi MC, et al. Trisomy 9 mosaicism syndrome. A case report and review of the literature. Ann Genet. 1994;37:14-20. PubMed PMID: 8010707.
Gerard-Blanluet M, Danan C, Sinico M, Lelong F, Borghi E, Dassieu G, et al. Mosaic trisomy 9 and lobar holoprosencephaly. Am J Med Genet. 2002;111:295-300. doi: 10.1002/ajmg.10481. PubMed PMID: 12210326.
Solomon BD, Turner CE, Klugman D, Sparks SE. Trisomy 9 mosaicism and XX sex reversal. Am J Med Genet A. 2007;143A:2688-91. doi: 10.1002/ajmg.a.31996. PubMed PMID: 17935231.
Frydman M, Shabtal F, Halbrecht I, Elian E. Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9. J Med Genet. 1981;18:390-2. doi: 10.1136/jmg.18.5.390. PubMed PMID: 7328619; PubMed Central PMCID: PMC1048764.
Djernes BW, Soukup SW, Bove KE, Wong KY. Congenital leukemia associated with mosaic trisomy 9. J Pediatr. 1976;88:596-7. doi: 10.1016/S0022-3476(76)80015-7. PubMed PMID: 1062544.
Shetty D, Desai K, Dave U. Trisomy 9p Syndrome in a Mentally Retarded Female Inherited from Maternal Reciprocal Translocation. Int J Hum Genet. 2006;6:203.
Stoll C, Chognot D, Halb A, Luckel JC. Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. J Med Genet. 1993;30:433-5. doi: 10.1136/jmg.30.5.433. PubMed PMID: 8320712; PubMed Central PMCID: PMC1016387.
Ginsberg J, Soukup S, Ballard ET. Pathologic features of the eye in trisomy 9. J Pediatr Ophthalmol Strabismus. 1982;19:37-41. PubMed PMID: 6809924.
Wooldridge J, Zunich J. Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am J Med Genet. 1995;56:258-64. doi: 10.1002/ajmg.1320560304. PubMed PMID: 7778585.
Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival. Sao Paulo Med J. 2011;129:428-32. doi: 10.1590/S1516-31802011000600010. PubMed PMID: 22249800.
Okumura A, Hayakawa F, Kato T, Kuno K, Watanabe K. Two patients with trisomy 9 mosaicism. Pediatr Int. 2000;42:89-91. doi: 10.1046/j.1442-200x.2000.01159.x. PubMed PMID: 10703244.
Saneto RP, Applegate KE, Frankel DG. Atypical manifestations of two cases of trisomy 9 syndrome: rethinking development delay. Am J Med Genet. 1998;80:42-5. doi: 10.1002/(SICI)1096-8628(19981102)80:1%3C42::AID-AJMG7%3E3.0.CO;2-S. PubMed PMID: 9800910.
Saura R, Traore W, Taine L, Wen ZQ, Roux D, Maugey-Laulom B, et al. Prenatal diagnosis of trisomy 9. Six cases and a review of the literature. Prenat Diagn. 1995;15:609-14. doi: 10.1002/pd.1970150704. PubMed PMID: 8532619.
View Counter: Abstract | 552 | and PDF | 0 |
- There are currently no refbacks.
pISSN: 0253-0716 eISSN: 1735-3688