Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fetal karyotyping was performed in 35 cases of omphalocele diagnosed by ultrasonography at 16-36 weeks' gestation. Nineteen fetuses (54%) had chromosomal abnormalities; 17 had trisomy 18, one triploidy, and one Klinefelter's syndrome. Twenty-six (74%) of the fetuses were male. Detailed ultrasound examination of the fetuses revealed an additional malformation in 73% of the cases; the most frequent was congenital heart disease (47%). Twenty-two pregnancies were aborted electively, four resulted in intrauterine or neonatal death, and nine infants are alive. These findings contrast with the low rates of associated defects and high survival rates reported in the pediatric literature.
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PMID:Fetal omphalocele: associated malformations and chromosomal defects. 330 12

The occurrence of double aneuploidy, ie, the existence of two chromosomal abnormalities in the same individual, is a relatively rare phenomenon. A 1-year-old boy with Down's syndrome resulting from de novo mosaic 21 trisomy with an additional X in the karyotype: 47,XXY/48,XXY,+21 (4%/96%) is reported. Besides the typical features of Down's syndrome, the patient did not have the commonly associated conditions (recurrent respiratory tract infections, congenital heart disease, thyroid or digestive tract problems). A molecular cytogenetic method with biotin-labeled probe D13Z1/D21Z1 was used to confirm the diagnosis and to clarify the status of Down's syndrome mosaicism which explained the milder stigmata of Down's syndrome in this case. The coexistence of Klinefelter's syndrome (47,XXY) also may have contributed to the development of normal height and micropenis in this patient. To our knowledge, this is the first case of Down's syndrome together with Klinefelter's syndrome in Taiwan.
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PMID:Double aneuploidy with Down's-Klinefelter's syndrome. 893 9

A 23-year-old male patient, who suffers from beta-thalassemia major, came to us for an endocrine-metabolic evaluation. Medical history showed a diagnosis of heart disease with heart failure since the age of 16, type 1 diabetes mellitus diagnosed at the age of 18, treated with an intensive insulin therapy with a poor glycometabolic control. Patient performed regular blood transfusions and iron chelation with deferasirox. An echocardiogram revealed an enlarged left ventricle. Patient had undergone a comprehensive study of buoyancy both basal and hormone-stimulated and it was therefore carried out a diagnosis of GH deficiency and hypogonadotropic hypogonadism. A recombinant GH replacement therapy was then prescribed. After six months of therapy, the patient reported a net improvement of asthenic symptoms. Physical examination showed a reduction in abdominal adiposity in waist and an increase of 5 cm in stature. Laboratory tests showed an amelioration of glycometabolic control, such as to justify a reduction in daily insulin dose. The stature observed was thought appropriate to begin the administration of testosterone. Moreover, the cardiological framework showed a reduction of left ventricular dilatation, good ventricular motility, global minimum persistent tricuspid but not mitral regurgitation and no alteration on ECG.
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PMID:A case of GH deficiency and beta-thalassemia. 2269 93

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported.
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PMID:Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate. 2477 70

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function. Cytogenetic analysis of the newborn showed double aneuploidy 48,XXY,+21. The maternal karyotype was 46,XX,inv(9)(p11q13) and the paternal was 46,XY. Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome. According to this study, there seem to be differences between the frequency of congenital heart disease among patients with Down-Klinefelter and Down syndrome. At about 11 months of age, the child died after undergoing heart surgeries. The early cytogenetic study is important for better diagnosis and management of the disease.
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PMID:Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease. 2897 59