Literature DB >> 21654006

Partial monosomy 7q.

Rajitha Ponnala1, Ashwin Dalal.   

Abstract

We report a case of partial monosomy 7q and partial trisomy 14q in a 4 year old male with microcephaly, prominent eyes, arched eyebrows, malformed ears and overlapping of toes. The unbalanced rearrangement resulted in monosomy of 7q33-->qter and trisomy of 14q32.2-->qter. The clinical phenotype was similar to the other cases of 7q deletion.

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Mesh：

Year:  2011        PMID： 21654006

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  3 in total

1.  The contribution of 7q33 copy number variations for intellectual disability.

Authors:  Fátima Lopes; Fátima Torres; Sally Ann Lynch; Arminda Jorge; Susana Sousa; João Silva; Paula Rendeiro; Purificação Tavares; Ana Maria Fortuna; Patrícia Maciel
Journal:  Neurogenetics       Date:  2017-12-19       Impact factor: 2.660

2.  A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

Authors:  C S Paththinige; N D Sirisena; U G I U Kariyawasam; R C Ediriweera; P Kruszka; M Muenke; V H W Dissanayake
Journal:  BMC Med Genomics       Date:  2018-05-08       Impact factor: 3.063

3.  7q36 deletion and 9p22 duplication: effects of a double imbalance.

Authors:  Karla de Oliveira Pelegrino; Sofia Sugayama; Ana Lúcia Catelani; Karina Lezirovitz; Fernando Kok; Maria de Lourdes Chauffaille
Journal:  Mol Cytogenet       Date:  2013-01-15       Impact factor: 2.009
  3 in total

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