An Interesting Prenatal Diagnosis: Double Aneuploidy

Abstract

Double aneuploidy, the existence of two chromosomal abnormalities in the same individual, is a rare condition. Early diagnosis of this condition is important to offer termination of pregnancy in genetic counselling. Cytogenetic analysis with amniocentesis and ultrasound examination is valuable for diagnosis of double aneuploidy. In this report we present a case with the karyotype of 48XXY+21 diagnosed prenatally.

Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies

“…8 In prenatal diagnosis, DT involving trisomy 18 or trisomy 21 was reported only in association with a sex chromosome imbalance, probably because when it involves 2 autosomes, it leads to early pregnancy failure. 7,9,10 In our case, US first showed a fetus with concurrent anomalies typical of trisomy 18 and trisomy 21. In particular, a flat profile, enlarged nuchal translucency, and trunk edema are common to both aneuploidies; absence of the nasal bone and a high peak velocity in the hepatic artery are typical of trisomy 21; whereas radial aplasia is usually associated with trisomy 18.…”

"Prenatal Detection of Complete Atrioventricular Septal Defect: A Down - Klinefelter Syndrome Case Report from Vietnam"

“…Various methods including screening (ultrasound, biochemical markers, non-invasive prenatal screening), diagnosis (cytogenetic analysis or molecular tests on chorionic villus sampling, amniotic fluid) have been applied to identify the risk of carrying fetus with chromosomal abnormalities for pregnant women [3]. Therefore, early detection will help improve the maternal and fetus health care management.…”

“…KS is one of the most common sex chromosomal abnormalities with the incidence around 1 in 500 to 1 in 1000 male births [2]. The existence of more than one chromosomal abnormality in the same individual could be considered as a rare phenomenon [3]. The first report of the patient with double trisomy combining DS and KS was published by Ford and colleagues in 1959 [4].…”

“…The first report of the patient with double trisomy combining DS and KS was published by Ford and colleagues in 1959 [4]. The patients with both DS and KS have variable clinical presentations [3]. The main characteristics of DS could be developmental delay, single palmar crease, short stature, facial anomalies, hypotony and short hands.…”

“…The main characteristics of DS could be developmental delay, single palmar crease, short stature, facial anomalies, hypotony and short hands. Additionally, cardiac and gastrointestinal defects, hypothyroidism, and celiac disease are commonly associated with DS [3]. Congenital heart defects have found in 40-60% of DS cases [5] but rarely reported in children with KS [6].…”