منابع مشابه
Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21.
BACKGROUND It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids. METHODS We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years. The cytogenetic analysis r...
متن کاملAn unusual combination of trisomy 21 and partial trisomy 5q.
The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47...
متن کاملTrisomy 21 tilts the balance.
Approximately 5% of children with Down syndrome (DS) are born with a unique transient clonal megakariyo-erythroblastic proliferation disorder often called transient myeloproliferative disorder (TMD). Spontaneous recovery usually occurs within up to several months. However, about one-fifth of these patients will develop full-blown acute leukemia with biphenotypic megakaryocyticerythroid features...
متن کاملTrisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome* Summary. Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome. Trisomy 21 Down's syndrome associated with maternal mosaicism was first described by Smith et al in 1962. Since then there have been at ...
متن کاملRisk factors for nondisjunction of trisomy 21.
The leading cause of Down syndrome (DS) is nondisjunction of chromosome 21 occurring during the formation of gametes. In this review, we discuss the progress made to identify risk factors associated with this type of chromosome error occurring in oogenesis and spermatogenesis. For errors occurring in oocytes, the primary risk factors are maternal age and altered recombination. We review the cur...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology
سال: 2015
ISSN: 0019-5154
DOI: 10.4103/0019-5154.169169