A case of mosaic trisomy 14 due to an isochromosome, i(14q)
نویسندگان
چکیده
منابع مشابه
Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.
A case of trisomy 14q mosaicism is described and compared with three other similar reported cases. The clinical picture is characterised by severe developmental retardation, failure to thrive, and somatic abnormalities including skeletal asymmetry, high arched or cleft palate, and low set dysplastic ears. The present chromosome imbalance probably resulted from dissociation of a balanced 14q15q ...
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We describe a novel case of simultaneous karyotypic abnormalities of isochromosome 17q and trisomy 14 in a patient with myelodysplastic syndrome (MDS) in leukemic transformation. A 66-yr-old Korean man was admitted to Severance Hospital for evaluation of pancytopenia. On the basis of bone marrow studies at 3 different stages, he was diagnosed with MDS in leukemic transformation. Chromosome kary...
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Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.
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A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary sexual characteristics. Ultrasound scanning showed hypoplastic uterus and gonadal dysgensis. Chromosomal analysis revealed the mosaic status for the isochromosome formation in the long arm of X, i(Xq). Proband had 3 cell lines. Her karyotype...
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Background: Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations. Methods: Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, an...
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ژورنال
عنوان ژورنال: Japanese Journal of Human Genetics
سال: 1984
ISSN: 0021-5074
DOI: 10.1007/bf01876761