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Literature DB >> 4140913

Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I.

M Mikkelsen, S Vestermark.

Abstract

Entities: Species

Mesh：

Year: 1974 PMID： 4140913 PMCID： PMC1013215 DOI： 10.1136/jmg.11.4.389

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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20 in total

1. [G monosomies].

Authors: R Berger
Journal: Nouv Presse Med Date: 1972-04-08

2. Identification of human chromosomes by DNA-binding fluorescent agents.

Authors: T Caspersson; L Zech; C Johansson; E J Modest
Journal: Chromosoma Date: 1970 Impact factor: 4.316

3. [Monosomy for the centromeric regions of chromosome 21].

Authors: M O Rethoré; B Dutrillaux; G Baheux; J Gerveaux; J Lejeune
Journal: Exp Cell Res Date: 1972-02 Impact factor: 3.905

4. A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

Authors: U Gripenberg; J Elfving; L Gripenberg
Journal: J Med Genet Date: 1972-03 Impact factor: 6.318

5. Monosomy G: case report and review of the literature.

Authors: R D Greenwood; A Sommer
Journal: J Med Genet Date: 1971-12 Impact factor: 6.318

6. [Viability in monosomy G].

Authors: R Böhm; W Fuhrmann
Journal: Monatsschr Kinderheilkd Date: 1969-04

7. The G deletion syndromes.

Authors: R J Warren; D L Rimoin
Journal: J Pediatr Date: 1970-10 Impact factor: 4.406

8. A case of monosomy G?

Authors: B Hall; K Fredga; N Svenningsen
Journal: Hereditas Date: 1967 Impact factor: 3.271

9. A child with partial deletion of a G-group autosome.

Authors: L E Reisman; A Darnell; J W Murphy; B Hall; S Kasahara
Journal: Am J Dis Child Date: 1967-09

10. Autosomal monosomy in man. Complete monosomy G (21-22) in a four-and-one-half-year-old mentally retarded girl.

Authors: M S Al-Aish; F De la Cruz; L A Goldsmith; J Volpe; G Mella; J C Robinson
Journal: N Engl J Med Date: 1967-10-12 Impact factor: 91.245

7 in total

1. 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
Journal: Eur J Hum Genet Date: 2008-11-12 Impact factor: 4.246

Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I.

1. [G monosomies].

2. Identification of human chromosomes by DNA-binding fluorescent agents.

3. [Monosomy for the centromeric regions of chromosome 21].

4. A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

5. Monosomy G: case report and review of the literature.

6. [Viability in monosomy G].

7. The G deletion syndromes.

8. A case of monosomy G?

9. A child with partial deletion of a G-group autosome.

10. Autosomal monosomy in man. Complete monosomy G (21-22) in a four-and-one-half-year-old mentally retarded girl.

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

2. A low frequency mosaicism for monosomy 21 in a live born female.

3. Clinical and cytogenetic studies of two infants with partial monosomy G.

4. Four new cases of ring 21 and 22 including familial transmission of ring 21.

5. "Compensatory" uniparental disomy of chromosome 21 in two cases.

6. A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

Review 7. Molecular genetics of human chromosome 21.