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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, hypogonadism, and congenital heart disease. The authors describe a 30-month-old boy with 49,XXXXY syndrome, global developmental delay and white matter changes in the brain magnetic resonance imaging. They reviewed the literature to delineate a specific magnetic resonance imaging pattern of 49,XXXXY syndrome.
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PMID:Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. 2215 92

The 49, XXXXY syndrome is a rare sex chromosome polysomy, first described by Fraccaro and colleagues in 1960. The approximate incidence of this disorder is 1 in 85,000 male births. To date, >100 cases had been published in the literature. Patients with 49, XXXXY syndrome show some peculiar clinical features, such as mental retardation, facial dysmorphism, ambiguous genitalia, and multiple skeletal and cardiac defects. We report a new case of 49, XXXXY syndrome; the first Italian case to our knowledge.
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PMID:49, XXXXY syndrome: an Italian child. 2257 Sep 69

49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic testing at 14 years of age due to facial dysmorphism and hypergonadotropic hypogonadism. He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. He also had agenesis of the right kidney, hydronephrosis of the left kidney with hydroureter which is not a known association of 49,XXXXY syndrome. The patient was the offspring of a mother with gestational diabetes. There is a strong correlation between maternal diabetes and congenital anomalies, especially renal and cardiovascular anomalies. Additionally, it has been noted that gestational diabetes increases the incidence of chromosomal aneuploidies. The teratogenic effects of maternal diabetes during embryogenesis may be the causative factor for the final phenotype of 49,XXXXY syndrome and renal agenesis.
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PMID:An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. 2303 47


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