Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn
Carolina Leão de Moraes, Nádia Aparecida Bérgamo, Natália Cruz e Melo, Roberta Machado de Oliveira Frota Curado, Waldemar Naves do Amaral
Objectives: To Describe the complete trisomy of chromosome 9 and morphological changes of the newborn. Methods: This case report described 47XX+9 in newborn of 19 year-old healthy primigesta, in Goiania, Brazil. Ultrasound was used in the 20th week of gestation to analyze multiple fetal malformations. Cytogenetic analysis (Bandage G) was used to identify the karyotype of the newborn and parents. Results: The cytogenetic analysis (G banding), showed that the fetus was female and had a 47,XX,+9 karyotype. The delivery was carried out by cesarean section at the 34th week. The evolution was unfavorable, baby survived for approximately 65 minutes and showed neonatal ocular hypertelorism, micrognathia, low ear implantation with pavilion auricle anomaly, ambiguous genitalia, spina bifida, and clubfoot. The analysis performed by chromosomal banding technique with umbilical cord lymphocytes culture showed of 47XX+9 karyotype in all 20 surveyed cells. Karyotyping of peripheral blood parents was realized but both not showed chromosomal changes. Conclusions: According to our knowledge, this is the second case of 47XX + 9 in Brazil and the detection of morphological changes caused by rare syndromes during pregnancy may help in diagnosis and appropriate clinical management because they direct families to genetic tests that can essential for the future of gestation.
1. Feingold M, Atkins L. A case of trisomy 9. J Med Genet. 1973;10(2):184-7. http://dx.doi.org/10.1136/jmg.10.2.184. PMid:4714588.
2. Henedi MMA, Mohammed FM, Masoud HA, Abualhasan SJ, Al Awadiet SA. Trisomy 9 syndrome in a neonate with unusual features. Egypt J Med Hum Genet. 2009;10(2):238-42.
3. Pruksanusak N, Rujirabanjerd S, Kanjanapradit K, Kor-anantakul O, Suntharasaj T, Suwanrath C, et al. Prenatal diagnosis of complete trisomy 9 with a novel sonographic finding of heart calcification. J Ultrasound Med. 2014;33(10):1871-3. http://dx.doi.org/10.7863/ultra.33.10.1871. PMid:25253836.
4. Murta CGV, Vargas PRM. Trissomia do cromossomo 9 associada com o aumento da transluscência nucal: correlação ultrassonografica e anatomopatológica. Radiol Bras. 2001;34(2):105-8. http://dx.doi.org/10.1590/S0100-39842001000200010.
5. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of leukocites cultured from human peripheral blood. Exp Cell Res. 1960;20(3):613-6. http://dx.doi.org/10.1016/0014-4827(60)90138-5. PMid:13772379.
6. Scheres VMJC. Identification of two Robertsonian translocations with a Giemsa banding technique. Hum Genet. 1972;15(3):253-6. http://dx.doi.org/10.1007/BF00702361. PMid:4117149.
7. Seabright M, Gregson N, Mould S. Trisomy 9 associated with enlarged 9qh segment in a liveborn. Hum Genet. 1976;34(3):323-5. http://dx.doi.org/10.1007/BF00295299. PMid:1002157.
8. Katayama KP, Wilkinson EJ, Herrmann J, Glaspey JC, Agarwal AB, Roesler MR, et al. Clinical delineation of trisomy 9 syndrome. Obstet Gynecol. 1980;56(5):665-8. PMid:7432742.
9. Mantagos S, McReynolds JW, Seashore MR, Breg WR. Complete trisomy 9 in two liveborn infants. J Med Genet. 1981;18(5):377-82. http://dx.doi.org/10.1136/jmg.18.5.377. PMid:7328618.
10. Stipoljev F, Kos M, Kos M, Miskovi B, Matijevic R, Hafner T, et al. Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review. J Matern Fetal Neonatal Med. 2003;14(1):65-9. http://dx.doi.org/10.1080/jmf.22.214.171.124. PMid:14563095.
11. Francke U, Benirschke K, Jones OW. Prenatal diagnosis of trisomy 9. Humangenetik. 1975;29(3):243-50. PMid:1165103.
12. Sherer DM, Wang N, Thompson HO, Peterson JC, Miller ME, Metlay LA, et al. An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis. Prenat Diagn. 1992;12(1):31-7. http://dx.doi.org/10.1002/pd.1970120105. PMid:1557309.