© Kamla-Raj 2004 Int J Hum Genet, 4(1): 71-73 (2004) An Uncommon Congenital Cardiovascular Malformation with Turner Syndrome – A Case Report C. Emmanuel 1 , K.M. Cherian 1 , P.M. Gopinath 2 , Snehal Kulkarni 1 , N. Chandra 2 and A. Ramesh 2 1. Institute of Cardio Vascular Diseases, Madras Medical Mission, 4A, Mogappair, Chennai 600 037, Tamil Nadu, India 2. Department of Genetics, University of Madras, Taramani Campus, Chennai 600 113, Tamil Nadu, India KEY WORDS Congenital cardiovascular malformations; Chromosome abnormality; Transposition of great arteries; Turner syndrome ABSTRACT The association of Turner syndrome (TS) with congenital cardio vascular malformations is well established. Bicuspid aortic valve and coarctation of aorta have been associated most commonly with Turner syndrome. There are also rare reports of atrial septal defect and aortic aneurysm with Turner syndrome. We report a uncommon case of transposition of great arteries (TGA) associated with turner syndrome (45, X, 16qh+). INTRODUCTION Turner Syndrome, also known as Monosomy X (or Gonadal dysgenesis or ‘Ullrich – Turner Syndrome), is a rare genetic disorder and occurs in 1 in 2500 female births. The karyotype can be either due to monosomy X (45,X), mosaicism (45,X/46,XX) or a structural abnormality of the X chromosome (Zinn et al. 1993; Wolff et al. 2000). Few studies suggest that some Turner patients have Y chromosomal material in addition to the one X Chromosome (Tsuchiya et al. 1995; Quilter et al. 1998). The syndrome is characterised by short stature, ovarian failure and presence of other clinical features such as webbed neck, congenital cardiovascular malformations (CCVM), renal abnormalities, cubitas valgus and neurocogenetive deficits. The CCVM ranges 17 to 47% among Turner syndrome cases and have an increased risk of mortality. Here we first report a child with Turner syndrome who had trans- position of great arteries as cardio vascular malformation. MATERIALS AND METHODS Informed consent was obtained from parents in accordance with the ethics committee of the ‘Institute of Cardio Vascular Diseases’. Transthoracic M-mode, two dimensional and pulsed Doppler echocardiography were performed with a Sonos 5500 system. On the day of echocardiographic examination, 2ml of venous blood was collected in a sodium heparin precoated syringe. Phytohemagglutinin stimulated lymphocyte cultures were set up following the method of Hungerford (1965). GTG banding method of Seabright (1971) was employed. Photograph of metaphase plate was taken under an oil immersion lens (100x) using TMAX 100 film in Olympus microscope. Chromosomal anomalies were designated according to the standard nomenclature (ISCN 1995). RESULTS The female patient YAR was the third child born to 37 year old mother and 41 year old father. The parents are healthy and had consangui- neous (First degree) marriage. Other two sibs were normal and there was no family history of congenital anomalies. She was born at full term of an uncomplicated pregnancy. The birth weight was 2850g, had a length of 41 cm and the head circumference was 34 cm. The health problem started soon after the birth (asphyxia). She was admitted in the neonatal ward for 15 days and was diagnosed to have a complex cardiac defect. General examination of the proband revealed the following features: dolicho- cephaly (Fig. 1a), flat face, drooping eyelids (ptosis), sunset eyes (Fig. 1b), low set ears, webbing of the neck (Fig. 1c), cutis laxa, swelling of the hands and feet, short fourth metacarpels, broad chest and cardiac murmur. Laboratory