Literature DB >> 9032644

At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

D Smeets1, C van Ravenswaaij, J de Pater, K Gerssen-Schoorl, J Van Hemel, G Janssen, A Smits.   

Abstract

Carriers of balanced reciprocal translocations may have a (high) risk for producing liveborn children with an unbalanced karyotype. We report a large family in which a translocation between the long arm of chromosome 11 and the short arm of chromosome 13 is segregating in at least five generations. During the course of our study 15 carriers of the balanced translocation were identified and nine cases of partial trisomy of the long arm of chromosome 11 were detected during pre- and postnatal studies. Several of the patients were thoroughly clinically examined and compared with similar published cases.

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Mesh：

Year:  1997        PMID： 9032644      PMCID： PMC1050841          DOI： 10.1136/jmg.34.1.18

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


  27 in total

1.  [Partial trisomy of the long arm of the chromosme 11 by malsegregation of a maternal translocation t(11;22)(q23 1;q1 11)].

Authors:  B Noel; M Levy; M O Rethoré
Journal:  Ann Genet       Date:  1976-06

2.  [2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia].

Authors:  C Laurent; M C Biemont; M Bethenod; L Cret; M David
Journal:  Ann Genet       Date:  1975-09

3.  [2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families].

Authors:  A Aurias; C Turc; Y Michiels; P M Sinet; D Graveleau; J Lejeune
Journal:  Ann Genet       Date:  1975-09

4.  Duplication 11 (q21 to 23 leads to qter) syndrome.

Authors:  U Francke; F Weber; R S Sparkes; P D Mattson; J Mann
Journal:  Birth Defects Orig Artic Ser       Date:  1977

5.  An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

Authors:  P Jacobsen; M Hauge; K Henningsen; N Hobolth; M Mikkelsen; J Philip
Journal:  Hum Hered       Date:  1973       Impact factor: 0.444

6.  Cri-du-chat syndrome combined with partial C-group trisomy.

Authors:  J Mann; J H Rafferty
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

7.  Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.

Authors:  H Nakai; Y Yamamoto; Y Kuroki
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

Review 8.  Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.

Authors:  J M Hertz; N Tommerup; F B Sørensen; U V Henriques; A Nielsen; A J Therkelsen
Journal:  Clin Genet       Date:  1995-05       Impact factor: 4.438

9.  Trisomy 11q(q21 leads to qter).

Authors:  P I Bader; M Jansch; D Hoffman; C G Palmer; H Gerber; G Taylor
Journal:  Birth Defects Orig Artic Ser       Date:  1978

10.  Partial trisomy 11q as the result of sporadic translocation.

Authors:  I W Lurie; G I Lazjuk; Y I Usova; D B Gurevich
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132
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  5 in total

1.  Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Authors:  B Funke; L Edelmann; N McCain; R K Pandita; J Ferreira; S Merscher; M Zohouri; L Cannizzaro; A Shanske; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

2.  A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.

Authors:  Meena Lall; Seema Thakur; Ratna Puri; Ishwar Verma; Mithali Mukerji; Pankaj Jha
Journal:  Mol Cytogenet       Date:  2011-09-21       Impact factor: 2.009

Review 3.  Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.

Authors:  Austin Walker; Xianfu Wang; Young Mi Kim; Xianglan Lu; Ashley Taylor; Danielle Demarzo; Shibo Li; Hui Pang
Journal:  Mol Cytogenet       Date:  2022-04-19       Impact factor: 1.904

4.  Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Authors:  Rongyu Chen; Chuan Li; Bobo Xie; Jin Wang; Xin Fan; Jingsi Luo; Xuyun Hu; Shaoke Chen; Yiping Shen
Journal:  Mol Cytogenet       Date:  2014-12-24       Impact factor: 2.009

5.  Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS.

Authors:  Usha R Dutta; Venugopala Swamy; Rajitha Ponnala; Shagun Aggarwal; Ashwin Dalal
Journal:  J Reprod Infertil       Date:  2019 Apr-Jun
  5 in total

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