Balkan Journal of Medical Genetics

DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE
Shu X, Zou C, Shen Z*
*Corresponding Author: Zheng Shen, M.D., The Children’s Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, People’s Republic of China; Tel.: +86-13575743518; Fax: +86-571- 87033296; E-mail: shenzheng@tom.com
page: 85

CASE REPORT

A 13-hour-old male infant, the first-born of a non consanguineous marriage to a 23-year-old father and a 21-year-old mother, presented cyanosis half an hour after birth. The baby was delivered by Cesarean section at a local hospital at 38 weeks’ gestation because the ultrasound assessment showed the amniotic fluid was less than normal. He was gravida 3, para 1, and born without asphyxia history. His birth weight was 2750 g with an Apgar score of 10 at 1 min. Half an hour after birth, he exhibited cyanosis of the lips and face when taking a bath. He was immediately administered oxygen inhalation using head hood and medicine treatment through an intravenous injection. He was transferred to our hospital due to the fact that his symptoms did not improve after therapy. On the way to our hospital, he was administered oxygen inhalation through a nasal catheter, and the cyanosis was relieved. Physical examination showed that the child was 50 cm in height and his head circumference was 33.5 cm. The boy’s anterior fontanelle was patent and flat without broadening cranial sutures. The genitalia were normal immature male. On admission, he presented with tachypnea, cyanosis and slight hypertonia. The features of DS including hypertelorism, slightly lowset ears with protruding pinna, were obvious. Chest radiography showed exudative lesions in the lungs. Two-dimensional echocardiography indicated complex CHD with the presence of an ostium secundum atrial septal defect (diameter 0.6 cm, bidirectional shunt flow), enlarged right ventricle and mild tricuspid valve regurgitation (Figure 1). Cytogenetic study performed on peripheral blood samples using standard procedures revealed a complement of 48 chromosomes with two extra chromosomes in the G group. Fifty metaphases from PHA-stimulated peripheral blood lymphocytes demonstrated a karyotype of 48,XXY,+21 according the International System for Human Cytogenetic Nomenclature (ISCN) (2009) (Figure 2). There was no evidence of mosaicism and the diagnosis of double aneuploidy involving chromosome 21 and X was made. Chromosomal karyotypes of the parents were unknown due to their refusal to be tested, and they were counseled accordingly.

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