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Literature DB >> 4544092

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

M O Rethoré, B Dutrillaux.

Abstract

Entities: Disease Species

Mesh：

Year: 1973 PMID： 4544092

Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995

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Cited

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21 in total

1. Partial trisomy D: a diagnostic and cytogenetic dilemma.

Authors: M M Cohen; A Rosenmann; J Dagan; C Legum
Journal: J Med Genet Date: 1976-12 Impact factor: 6.318

2. Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

Authors: N M Smith; H Fernandez; H M Chambers; D F Callen
Journal: J Med Genet Date: 1992-07 Impact factor: 6.318

3. Nonrandom distribution of exchange points in patients with structural rearrangements.

Authors: Y Nakagome; H Chiyo
Journal: Am J Hum Genet Date: 1976-01 Impact factor: 11.025

4. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal: Am J Med Genet A Date: 2008-07-01 Impact factor: 2.802

5. 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

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

1. Partial trisomy D: a diagnostic and cytogenetic dilemma.

2. Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

3. Nonrandom distribution of exchange points in patients with structural rearrangements.

4. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

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

6. Partial trisomy 15q1.

7. Partial deletion 21: case report with biochemical studies and review.

Review 8. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

9. Cytogenetic and clinical studies in five cases of inv dup(15).

Review 10. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.