Literature DB >> 146741

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).

O Sanchéz, P Mamunes, J J Yunis.   

Abstract

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.

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Mesh：

Year:  1977        PMID： 146741      PMCID： PMC1013646          DOI： 10.1136/jmg.14.6.459

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


  4 in total

1.  Trisomy for the distal half of the short arm of chromosome 9. A variant of the trisomy 9p syndrome.

Authors:  R C Lewandowski; J J Yunis; R Lehrke; J O'Leary; K F Swaiman; O Sanchez
Journal:  Am J Dis Child       Date:  1976-06

2.  Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.

Authors:  O Sanchez; J J Yunis; J I Escobar
Journal:  Humangenetik       Date:  1974-04-24

3.  Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

Authors:  J D Williams; R L Summitt; P R Martens; R A Kimbrell
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

4.  The G-banded prophase chromosomes of man.

Authors:  J J Yunis; O Sanchez
Journal:  Humangenetik       Date:  1975
  4 in total
  3 in total

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

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

2.  Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother.

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

3.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  3 in total

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