neonatal diagnosis of 49, xxxxy syndrome
نویسندگان
چکیده
background: 49, xxxxy syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. the classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. case: a two month-old boy with intrauterine growth restriction (iugr) and low birth weight, facial dysmorphism, clinodactyly in feet, microphallus, and right undescendent testis were seen by neonatologist. chromosomal studies via techniques of gtg-banding showed the constitution to be 49,xxxxy in all cells. he was visited by the pediatric cardiologist for congenital heart disease. no obvious malformation and congenital heart disease were seen. conclusion: in the case, the main presentation of iugr and low birth weight, clinodactyly with facial dysmorphism and genital abnormalities led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis
منابع مشابه
Neonatal diagnosis of 49, XXXXY syndrome
BACKGROUND 49, XXXXY syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. The classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. CASE A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet...
متن کامل49,XXXXY syndrome: behavioural and developmental profiles.
Behavioural, psychological, and cognitive profiles of three cases, including a 5 year old male with a 49,XXXXY karyotype and a (3;15) translocation, a 9 year old male with a 49,XXXXY karyotype, and a 32 year old male with 48,XXXY/49,XXXXY mosaicism, are presented. Significant behavioural problems were seen in the two older patients. The degree of mental retardation and impairment of language ab...
متن کامل49,XXXXY syndrome with autoimmune diabetes and ocular manifestations.
OBJECTIVE We report a rare case of 49,XXXXY syndrome with autoimmune diabetes (requiring insulin therapy), bilateral cataracts and unilateral glaucoma. CLINICAL PRESENTATION AND INTERVENTION A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism...
متن کامل49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele.
A 1-month-old boy was referred to our hospital with right hydronephrosis. Excretory urography showed poor visualization of the right kidney and a filling defect in the bladder. Chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY, and a diagnosis of 49,XXXXY Klinefelter s syndrome associated with hydronephrosis caused by intravesical ureterocele was made. 49,XXXXY Klinefelt...
متن کامل49,XXXXY: a distinct phenotype. Three new cases and review.
Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct cli...
متن کاملCongenital knee dislocation in a 49,XXXXY boy.
We report on a 12 year old mentally retarded boy who presented at birth with bilateral knee dislocations, dislocation of the right hip, and general joint laxity. Cytogenetic studies showed a 49,XXXXY karyotype. Hyperlaxity of joints is known to occur in 49,XXXXY patients, but congenital knee dislocation has not been reported. Rarely in 49,XXXXY and 49,XXXXX syndromes Larsen-like features may be...
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عنوان ژورنال:
international journal of reproductive biomedicineجلد ۱۳، شماره ۳، صفحات ۱۸۱-۰
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