Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn

Abstract

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. dismorphism (small ears, microphthalmia, bulbous nose, small mouth, high palate), central nervous system abnormalities (hydrocephalus, malformation, Dandy-Walker syndrome, holoprosencephaly), congenital heart disease (most commonly ventricular septal defects), genitourinary anomalies (genital hypoplasia, cryptorchidism, cystic kidneys, hydronephrosis), and skeletal anomalies (dislocations, deformities). 1,3,4 in metaphase for chromosome into modifications. After processing the culture the GTG banding following the protocol of 6 with modifications. An average of 20 metaphase cells were analyzed for determination of the patient’s karyotype. For confirmation of chromosomal disorder, the chromosomes of the umbilical cord lymphocytes were cultured and analyzed by banding technique. Results showed a nonmosaic constitution of trisomy 9 (47,XX,+9) in all 20 surveyed cells, confirming the cytogenetic analysis of amniotic fluid. Who asked karyotyping of peripheral blood progenitors, but both had karyotypes with no chromosomal changes.