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Literature DB >> 468232

A case of 21q--syndrome with normal SOD-1 activity.

Y Yamamoto, N Ogasawara, A Gotoh, H Komiya, H Nakai, Y Kuroki.

Abstract

A female infant with del(21)(pter leads to q22.1--2:) constitution identified by G, Q, and R banding is reported. She had marked mental and physical retardation, generalized hypertonia, microphthalmia with persistent hypoplastic primary vitreous, blepharochalasia, high nasal bridge, micrognathia, malformed ears with preauricular pits, and overlying fingers. The assay for superoxide dismutase-1 (SOD-1) activity in the patient revealed a normal value and it was suggested that the gene locus for SOD-1 in 21q22.2 leads to qter is not compatible with the presence of the gene dosage effect in the monosomic state.

Entities: Disease Gene Species

Mesh：

Substances：
Superoxide Dismutase

Year: 1979 PMID： 468232 DOI： 10.1007/bf00272832

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

14 in total

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17 in total

1. Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion.

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3. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Authors: Robert Lyle; Frédérique Béna; Sarantis Gagos; Corinne Gehrig; Gipsy Lopez; Albert Schinzel; James Lespinasse; Armand Bottani; Sophie Dahoun; Laurence Taine; Martine Doco-Fenzy; Pascale Cornillet-Lefèbvre; Anna Pelet; Stanislas Lyonnet; Annick Toutain; Laurence Colleaux; Jürgen Horst; Ingo Kennerknecht; Nobuaki Wakamatsu; Maria Descartes; Judy C Franklin; Lina Florentin-Arar; Sophia Kitsiou; Emilie Aït Yahya-Graison; Maher Costantine; Pierre-Marie Sinet; Jean M Delabar; Stylianos E Antonarakis
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Journal: Hum Genet Date: 1983 Impact factor: 4.132