Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
نویسندگان
چکیده
منابع مشابه
Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a u...
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BACKGROUND This study measured lymphocyte mitochondrial O(2) consumption (cellular respiration) in children with trisomy 21. METHODS Peripheral blood mononuclear cells were isolated from whole blood of trisomy 21 and control children and these cells were immediately used to measure cellular respiration rate. [O(2)] was determined as a function of time from the phosphorescence decay rates (1/τ...
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Patients with Down syndrome (DS) display a unique spectrum of malignancies, with a 10- to 20-fold higher risk of acute leukemias, and a markedly lower incidence of solid tumors. This review discusses the current understanding of the basis for this distinctive pattern of cancer incidence and the clinical and biologic features of the malignant disorders most frequent in DS individuals: transient ...
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We report three cases of asymptomatic celiac disease identified in children with Down syndrome after being screened at around twenty-four months of age. These cases raise the question as to what age is screening for celiac disease indicated in a child with Down syndrome and no symptoms.
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 ...
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ژورنال
عنوان ژورنال: Yonsei Medical Journal
سال: 2005
ISSN: 0513-5796
DOI: 10.3349/ymj.2005.46.2.284