Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.
نویسندگان
چکیده
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind in the evaluation of patients with micropenis, mental retardation and accompanying behavioral disturbances. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations.
منابع مشابه
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
UNLABELLED Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological feat...
متن کامل48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome
BACKGROUND Sex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed. CASE PRESENTATION Here, we report a boy with 48,XXXY/49,XXXXY mosaici...
متن کاملMolecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies
BACKGROUND Male sex chromosome aneuploidies are underdiagnosed despite concomitant physical and behavioral manifestations. OBJECTIVE To develop a non-invasive, rapid and high-throughput molecular diagnostic assay for detection of male sex chromosome aneuploidies, including 47,XXY (Klinefelter), 47,XYY, 48,XXYY and 48,XXXY syndromes. METHODS The assay utilizes three XYM and four XA markers t...
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 کامل47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
Klinefelter's syndrome is a frequent genetic sexual alteration in males, associated with the 47,XXY aneuploidy. Several syndrome variants are caused by different X and Y polysomy and mosaicisms, including the 49,XXXXY condition described by some authors as Fraccaro's syndrome. Mosaics with three or more different chromosomal lines are very rare. Here, we describe a case with XXY/XXXY/XXXXY mosa...
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ورودعنوان ژورنال:
- The Turkish journal of pediatrics
دوره 51 3 شماره
صفحات -
تاریخ انتشار 2009