Mental Retardation in A Girl with Turner's Syndrome with An Active Ring X Chromosome Missing XIST.
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چکیده
منابع مشابه
X linked mental retardation: a family with a separate syndrome?
Four males with X linked mental retardation are described. Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the hair line, but no individual patient had all the features of the syndrome and none had macrocephaly. The facial appearance was distinctive but different from that seen in the FG syndrome. The cases a...
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Structural autosome defects have rarely been described in autism. In this report, the authors describe the association of autism and mental retardation in a girl with mosaicism for a duplication of the long arm of chromosome 18 and a deletion of the short arm of chromosome 18.
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Small marker chromosomes (SMC) associated with severe Turner syndrome (TS) variants often represent reduced X chromosomes lacking the X inactivation center (XIC), perturbed dosage compensation, and unbalanced gene expression. A TS patient with mental retardation (MR), unusually short stature, facial and limb malformations, and karyotypic mosaicism involving SMCs is described. Cytogenetic and fl...
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An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males and most of their normal mothers were found to have the abnormal X chromosome...
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ژورنال
عنوان ژورنال: Clinical Pediatric Endocrinology
سال: 2001
ISSN: 0918-5739,1347-7358
DOI: 10.1297/cpe.10.131