Literature DB >> 3783626

Three children with partial trisomy 1q and partial monosomy 3p.

G T McCarthy, C N Fear, A C Berry.   

Abstract

We report a kindred in which three children suffer from partial trisomy 1q and partial monosomy 3p, transmitted by a balanced translocation which is maternal in one family and paternal in the other. The clinical features of the three children are similar and include severe mental handicap and severe scoliosis in the older two.

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Year:  1986        PMID： 3783626      PMCID： PMC1049787          DOI： 10.1136/jmg.23.5.466

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


  3 in total

1.  "De novo" trisomy 1q32 leads to 1qter and monosomy 3p25 leads to 3pter.

Authors:  E Yunis; H Egel; R Zúñiga; E Ramirez; O M Torres de Caballero; M Leibovici
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

2.  A 1q translocation family segregating for peptidase C.

Authors:  P J Cook; C N Fear; S Povey
Journal:  Cytogenet Cell Genet       Date:  1978

3.  Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318
  3 in total
  1 in total

1.  Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.

Authors:  Alicia Cervantes; Constanza García-Delgado; Fernando Fernández-Ramírez; Carolina Galaz-Montoya; Ariadna Berenice Morales-Jiménez; Karem Nieto-Martínez; Laura Gómez-Laguna; Judith Villa-Morales; Mónica Quintana-Palma; Jaime Berúmen; Susana Kofman; Verónica F Morán-Barroso
Journal:  BMC Med Genomics       Date:  2014-09-15       Impact factor: 3.063
  1 in total

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