Double aneuploidy: A case of trisomy 21 with XYY
Küçük Resim Yok
Tarih
2011
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
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.
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.
Açıklama
Anahtar Kelimeler
Cerrahi
Kaynak
European Journal of General Medicine
WoS Q Değeri
Scopus Q Değeri
Cilt
8
Sayı
4
