Literature DB >> 24036645

3p deletion syndrome.

Anupam Kaur1, S Khetarpal.   

Abstract

3p deletion is a rare cytogenetic finding. Here we describe a 3 months old male with congenital malformations. His karyotype revealed 3p deletion 46,XY,del(3)(p25-pter). The child had flexion deformity of wrist and elbow which has never been reported before.

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Year:  2013        PMID： 24036645

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


  4 in total

1.  Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Authors:  Monica Martin-de Saro; Zyndia Compean; Karina Aguilar; Luz María González-Huerta; Lautaro Plaza-Benhumea; Olga Messina-Baas; Sergio Alberto Cuevas-Covarrubiass
Journal:  Mol Syndromol       Date:  2021-07-20

2.  Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

Authors:  Anna A Kashevarova; Lyudmila P Nazarenko; Soren Schultz-Pedersen; Nikolay A Skryabin; Olga A Salyukova; Nataliya N Chechetkina; Ekaterina N Tolmacheva; Aleksey A Rudko; Pamela Magini; Claudio Graziano; Giovanni Romeo; Shelagh Joss; Zeynep Tümer; Igor N Lebedev
Journal:  Mol Cytogenet       Date:  2014-12-31       Impact factor: 2.009

3.  Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

Authors:  Meriam Hadj Amor; Sarra Dimassi; Amel Taj; Wafa Slimani; Hanene Hannachi; Adnene Mlika; Khaled Ben Helel; Ali Saad; Soumaya Mougou-Zerelli
Journal:  BMC Med Genet       Date:  2020-02-06       Impact factor: 2.103

4.  Case Report: A Case Report and Literature Review of 3p Deletion Syndrome.

Authors:  Junxian Fu; Ting Wang; Zhuo Fu; Tianxia Li; Xiaomeng Zhang; Jingjing Zhao; Guanglu Yang
Journal:  Front Pediatr       Date:  2021-02-10       Impact factor: 3.418
  4 in total

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