Mustafa SOLAK, Ayşegül BÜKÜLMEZ, Tevfik DEMİR, Reşit KÖKEN, Betül ESER, Gülengül Nadirgil KÖKEN, Hale ŞAMLI

Double aneuploidy: A case of trisomy 21 with XYY

Anöploidiler yaygın görülen kromozomal anomaliler olmalarına rağmen kromozom 21 ve Y’yi içeren çift anöploidiler çok nadirdir. Burada sarılığı ve polisitemisi olan Kromozom 21 ve Y’yi içeren çift anöploidili beş günlük bir vaka rapor edilmektedir. Tanı, modifiye tam kan ve mikroteknik yöntemle Giemsa-Tripsin-Leishman (GTL) bantlama tekniği kullanılarak yapılan karyotip analizi ile kondu. Olgumuzda Down Sendromu’nun tipik özellikleri mevcuttu. Ancak XYY’ye ait fenotipik özellikler yoktu. Ayrıca olgumuzda atriyal septal defekt, multiple trabeküler küçük ventriküler septal defekt ve orta derece pulmoner hipertansiyon da mevcuttu. 48,XYY,+21’in etyolojisinde yer alan etyolojik faktörler bilinmemektedir. 48,XYY,+21’in insidansının, fenotipik özelliklerinin ve tekrarlama riskinin belirlenmesi zordur.

Çift anöploidi: XYY’li trizomi 21 olgusu

Although aneuploidies are common structural chromosomal abnormalities, double aneuploidies involving chromosomes 21 and Y are very rare. Here we report a case of double aneuploidy involving chromosomes 21 and Y in a 5 day old baby with jaundice and polycythemia. The diagnosis was confirmed by karyotype analysis using modified “whole blood” and microtechnique methods followed by Giemsa-Trypsin-Leishman (GTL) banding technique. The patient had typical features of Down syndrome, however, phenotypic features of XYY was not present. In addition, the patient also had atrial septal defect, multiple trabecular small ventricular septal defect, and moderate degree of pulmonary hypertension. Etiological predisposing factor for 48,XYY,+21 is not known. It is difficult to determine the incidence, phenotypic properties, and recurrence risk of 48,XYY,+21.

PDF

___

1. Jones KL. XYY Syndrome. Smith’s Recognizable Patterns of Human Malformation 5 th ed. Philadelphia: WB Saunders 1997:70-71.
2. Ford CE, Jones KW, Miller OJ, et al. The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet 1959;1:709-10.
3. Kovaleva NV, Mutton DE. Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes. Am J Med Genet A 2005;134:24-32.
4. Li QY, Tsukishiro S, Nakagawa C, et al. Parental origin and cell stage of non-disjunction of double trisomy in spontaneous abortion. Congenit Anom (Kyoto) 2005;45:21-5.
5. Al-Aish MS, Dodson WE, Plato CC. Down's syndrome with XYY: 48,XYY, G+. Am J Dis Child 1971;121:444-6.
6. McLean SD. Congenital Anomalies. In: Mhairi G. MacDonald MDM, Mary M.K. Seshia, ed. Avery’s Neonatology Pathophysiology& Management of the Newborn. 6 th ed. Philadelphia: Lippincott Williams& Wilkins, 2005:893- 913.
7. Parmar RC, Muranjan MN, Swami S. Trisomy 21 with XYY. Indian J Pediatr 2002;69:979-81.
8. Widness JA, Pueschel SM, Pezzullo JC, Clemons GK. Elevated erythropoietin levels in cord blood of newborns with Down's syndrome. Biol Neonate 1994;66:50-5.
9. Gollop TR, Naccache NF, Auler-Bittencourt E, et al. Prenatal diagnosis of 48,XYY, +21 ascertained through ultrasound anomalies. Am J Med Genet 1991;39:76-7.