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Article

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].

Medycyna wieku rozwojowego - 1 Jan 2000

Szczałuba Krzysztof, Obersztyn Ewa, Ziemkiewicz Kamila, Jamsheer Aleksander, Bocian Ewa, Mazurczak Tadeusz

Abstract excerpt

Terminal deletion of the long arm of chromosome 2 belongs to the most common structural aberrations of subtelomeric chromosomal regions. Clinical manifestations of this syndrome comprise: global psychomotor delay, moderate to severe mental retardation with specific facial dysmorphism. In some cases a phenotype similar to Albright's hereditary osteodystrophy (AHO) may also be observed (short stature, obesity,...

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PMID: 17965466

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