Aim of the Work: To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood. Review will be included.Methods: Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed.Results: Multiple congenital anomalies including craniofacial features, centralnervous, cardiovascular, skeletal, gastric and urogenital systems becauseof chromosomal abnormality which indicated: 47, XY, inv (9) (p12;q13) + inv(9) (p12;q13) mat. Conclusion: Our case could be a new case of apparently complete trisomy 9syndrome with unusual findings.Key Words: Trisomy 9, congenital anomalies, karyotype, FIS

Abualhasan, SJ

Al Awadi, SA

Henedi, MMA

Masoud, HA

Mohammed, FM

English

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CASE REPORT                  Egypt. J. Med. Hum. Genet. Vol. 10, No. 2, Nov. 2009Copyright: All rights reserved for the Egyptian Journal of Medical Human Genetics238 ABSTRACT                                                                                                                                            Trisomy 9 syndrome in a neonate with unusual fea-turesMaha M. Abu Henedi1, Fawziah M. mohammed2, Hatem A. Masoud3, Sawsan J. Abualhasan and Sadika A. Al Awadi11Kuwait Medical Genetic Centre, Maternity Hospital, 2Faculty of Allied Health Sciences, Kuwait University, 3Pediatric Department, Farwania Hospital, KuwaitAim of the Work: To report a newborn infant with multiple congenital anoma-lies and apparent complete trisomy 9 in the blood. Review will be included.Methods: Clinical examination, TORCH screening, echocardiography, skel-etal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed. Results: Multiple congenital anomalies including craniofacial features, cen-tral nervous, cardiovascular, skeletal, gastric and urogenital systems because of chromosomal abnormality which indicated: 47, XY, inv (9) (p12;q13) + inv (9) (p12;q13) mat. Conclusion: Our case could be a new case of apparently complete trisomy 9 syndrome with unusual findings.Corresponding Author:  Maha M. Abou HenedyE-mail: genetics_123@hotmail.comKey Words:Trisomy 9, congenital anomalies, kary-otype, FISHINTRODUCTION                                Trisomy 9 is an uncommon chromo-some abnormality which can occur in a mosaic or non-mosaic state and presents with a distinct clinical picture. In 1973, trisomy 9 syndrome was first reported in a newborn male with multiple congeni-tal anomalies1. It is a relatively a rare chromosomal abnormality because most of affected pregnancies result in 1st tri-mester spontaneous abortions². Trisomy 9 syndrome, in mosaic and non-mosaic forms, shows abnormalities that seen both in trisomy 9p and 9q syndromes. However, cystic malformations of CNS are not seen either in trisomy 9 p or in 9q3. The common features are growth and mental retardation, low-set mal-formed ears, microcephaly, wide sutures and fontanelles, upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad nose with bul-bous tip, micrognathia, abnormal brain, congenital heart defects, skeletal and urogenital abnormalities4. Early death is common as only 25% lived beyond one week.5239Abu Henedi et al.CASE REPORT                                                     The proband was the only live birth child born to related healthy parents. The mother required progesterone in-jections during first two months of preg-nancy because of previous twice spon-taneous abortions. Fetal ultrasounds detected intrauterine growth retardation and oligohydramnios. The delivery was performed by cesarean section at 35 weeks of gestation due to fetal distress. Apgar scores were, 2, 5 at five and ten minute, respectively. Only one um-bilical artery was found. He was small for gestational age with birth weight 1.250 kg (< 5th centile), length 37cm (< 5th centile) and head circumference 36cm (at < 75th centile). Our case pre-sented with abnormal shape of the skull, with wide separated sutures and fonta-nels, low set malformed posterioly ro-tated ears, broad nasal base with promi-nant tip, narrow deep set eyes, high arched cleft palate and micrognathia. In addition cardiac defect, simian creases, talipes equinovarus, anal atresia were detected. The external genitalia were ambiguous where Small phallus and no palpaple gonads were detected. He sur-vived only for 4 hours after birth. TORCH screening was negative. Ab-dominal ultrasound showed hypoplas-tic kidneys (Rt.: 2.7x1.1cm and Lt.: 2.6X1.2) while the urinary bladder could not be visualized. Echocardiog-raphy showed VSD and ASD. Ultra-sound head (Fig. 1) detected hydro-cephalus, ventricular cyst, small cysts in hemispheric fissures and macrogyra. Chromosomal analysis was performed on lymphocytes using GTG and CBG banding (Figs. 2&3) revealed: 47, XY, inv (9) (p12; q13), + inv (9) (p12; q13). Subsequently, fluorescence in situ hy-bridization (FISH) technique was ap-plied on metaphase spreads and nuclei using whole chromosome WCP9 and telomeric probes specific for 9p/9q and LSI9p21/CEP9. In addition LSI bcr (22q11)/abl (9q34) were used to exclude iso chromosome 9 phenom-ena. All confirmed delineation of three copies of normal size chromosome 9. The mother’s Karyotype was 46, XX, inv (9) (p12; q13) while the father’s was 46, XY.Fig. 1: U/S head showed cystic malformations in CNS.Fig. 2: GTG banding showing 47, XY, inv (9) (p12; q13) + inv (9) (p12; q13).240Trisomy 9 syndrome in a neonate with unusual featuresFig. 3: C- banding showing 47, XY, inv (9qh) + inv (9qh).Fig. 4: FISH results showing 3 copies of normal chromosome 9 using WCP9 [VYSIS].Fig. 5: FISH result showing presence of three copies of each telomeric 9 locus. DISCUSSION                                                         We report on a case of apparently com-plete trisomy 9 in a newborn who died shortly after birth. It showed the clinical phenotypes overlapping that reported in mosaic and nonmosaic forms3,4,6,7. Our case showed unusual charactris-tics such as anal atresia and macrogyra and cysts in the ventricles and hemi-spheric fissures. Short distance between the anus and vulva and absence of the circular muscle around the anus were reported3. Hydrocephalus, lobar ho-loprocencephaly, Dandy-Walker mal-formation, subarachnoid cysts were reported as intracranial anomalies8,9.The external genitalia of our case wasambiguous to the extent that the sex de-termination was identified only after the result of Karyotype. However, hypo-plastic genitalia, hypospadius, micrope-nis and cryptorchidism were previously recorded in trisomy 9 syndrome9-11. Moreover, sex reversal in a patient with trisomy 9 mosaicism was reported.12The term complete trisomy 9 relied on the results of the cytogenetic analysis of 100 metaphases in peripheral blood sample which was confirmed by FISHstudy. Since one type of tissue was ex-amined, mosaicism was raised. Eduardo et al.13 suggested that trisomy 9 may be viable only in the mosaic state. Cyto-genetic study revealed that the extra copy of chromosome 9 is inverted (9) (p12; q13qh) and of maternal origin. It is well known that the pericentric inver-sion of chromosome 9 is a polymorphic variation estimated to be 1 to 3% in the normal human population14. Although the significance of this chromosome rearrangement is uncertain, it has been associated with repeated spontaneous abortions, infertility and congenital 241Abu Henedi et al.anomalies15,16. Also, the assumption that it increases the chance for non dis-junction could explain the bad obstetric history of the mother17. It is important to be aware of trisomy 9 syndrome prenatally when multiple congenital anomalies characteristic of trisomy 9 detected. Also, cytogenetic study of cell cultures derived from different tissues is recommended for accurate diagnosis and future genetic counseling.REFERNCERS                                                       1. Feingold M, Atkins L. A case of triso-my 9. J. Med. Genet. 1973;10(2):184-7.2. Ferreres JC, Planas S, Martínez-Sáez EA, Vendrell T, Peg V, Salcedo MT, et al. Pathological findings in the com-plete trisomy 9 syndrome: Three case reports and review of the literature. Pe-diatr.Dev.Pathol. 2008;11(1):23-9.3. Anneren G, Sedin G. Case report. Trisomy 9 syndrome. Acta Paediatr.Scand. 1981;70(1):125-8.4. Tarani L, Colloridi F, Raguso G, Riz-zuti A, Bruni L, Tozzi MC, et al. Tri-somy 9 mosaicism syndrome. A case report and review of the literature. Ann.Genet. 1994;37(1):14-20.5. McDuffie RS,Jr. Complete trisomy 9: Case report with ultrasound findings. Am.J.Perinatol. 1994;11(2):80-4.6. Qazi QH, Masakawa A, Madahar C, Ehrlich R. Trisomy 9 syndrome. Clin.Genet. 1977;12(4):221-6.7. Katayama KP, Wilkinson EJ, Her-rmann J, Glaspey JC, Agarwal AB, Roesler MR, et al. Clinical delineation of trisomy 9 syndrome. Obstet.Gyne-col. 1980;56(5):665-8.8. Gerard Blanluet M, Danan C, Sinico M, Lelong F, Borghi E, Dassieu G, et al. Mosaic trisomy 9 and lobar ho-loprosencephaly. Am. J. Med. Genet. 2002,15;111(3):295-300.9. Yeo L, Waldron R, Lashley S, Day Sal-vatore D, Vintzileos AM. Prenatal so-nographic findings associated with non-mosaic trisomy 9 and literature review. J. Ultrasound Med. 2003;22(4):425-30.10. 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(1):69-72.11. Kor Anantakul O, Suwanrath C, Kanngurn S, Rujirabanjerd S, Sunthar-asaj T, Pinjaroen S. Prenatal diagnosis of complete trisomy 9: A case report and review of the literature. Am. J. Perinatol. 2006;23(2):131-5.12. Solomon BD, Turner CE, Klugman D, Sparks SE. Trisomy 9 mosaicism and XX sex reversal. Am.J.Med.Genet.A 2007,15;143A(22):2688-91.13. Cantu ES, Eicher DJ, Pai GS, Dona-hue CJ, Harley RA. Mosaic vs. non-mosaic trisomy 9: Report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am. J. Med.Genet. 1996, 24;62(4):330-5.14. Rao BV, Kerketta L, Korgaonkar S, Ghosh K. Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its as-sociation with genetic diseases. Indian J. Hum. Genet. 2006;12(3):129-32.242Trisomy 9 syndrome in a neonate with unusual features15. Thomas IM. Cytogenetic basis of recurrent abortions. Perinatol. 1999;1:181-7.16. Nagvenkar P, Desai K, Hinduja I, Za-veri K. Chromosomal studies in in-fertile men with oligozoospermia & non-obstructive azoospermia. Indian J. Med. Res. 2005,l;122(1):34-42.17. Serra A, Brahe C, Millington Ward A, Neri G, Tedeschi B, Tassone F, et al. Pericentric inversion of chromo-some 9: Prevalence in 300 Down syn-drome families and molecular studies of nondisjunction. Am. J. Med. Genet. Suppl. 1990;7:162-8.

Trisomy 9 syndrome in a neonate with unusual features

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Trisomy 9 syndrome in a neonate with unusual features

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