Literature DB >> 8010711

First case of deletion 14q11.2q13: clinical phenotype.

P Grammatico1, S de Sanctis, C di Rosa, F Cupilari, G del Porto.   

Abstract

The first case of interstitial deletion 14q11.2q13 is related. The patient showed a severe neurological picture, microcephaly, right plagiocephaly, bilateral cryptorchidy, left hip subluxation and various dysmorphisms. The authors analyzed the characteristic symptoms in order to obtain the specific clinical phenotype. In addition they programmed a clinical follow-up to evaluate the life expectation and the evolution of the disease.

Entities:  

Mesh：

Year:  1994        PMID： 8010711

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  7 in total

Review 1.  Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

Authors:  C P Chen; C C Lee; L F Chen; C Y Chuang; S W Jan; B F Chen
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.

Authors:  C P Chen; S R Chern; C C Lee; W L Chen; M H Chen; K M Chang
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

3.  Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

Authors:  Sarah A Shoichet; Stella-Amrei Kunde; Petra Viertel; Can Schell-Apacik; Hubertus von Voss; Niels Tommerup; Hans-Hilger Ropers; Vera M Kalscheuer
Journal:  Hum Genet       Date:  2005-08-17       Impact factor: 4.132

Review 4.  A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Authors:  Tangui Le Guen; Nadia Bahi-Buisson; Juliette Nectoux; Nathalie Boddaert; Yann Fichou; Bertrand Diebold; Isabelle Desguerre; Florence Raqbi; Valérie Cormier Daire; Jamel Chelly; Thierry Bienvenu
Journal:  Neurogenetics       Date:  2010-08-24       Impact factor: 2.660

5.  Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Authors:  Farah Zahir; Helen V Firth; Agnes Baross; Allen D Delaney; Patrice Eydoux; William T Gibson; Sylvie Langlois; Howard Martin; Lionel Willatt; Marco A Marra; Jan M Friedman
Journal:  J Med Genet       Date:  2007-06-01       Impact factor: 6.318

6.  A child with mosaicism for deletion (14)(q11.2q13).

Authors:  Thilini H Gamage; Imaya U H Godapitiya; Shakila Nanayakkara; Rohan W Jayasekara; Vajira H W Dissanayake
Journal:  Indian J Hum Genet       Date:  2012-01

7.  A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.

Authors:  Xuyun Hu; Jun Liu; Ruolan Guo; Jun Guo; Zhipeng Zhao; Wei Li; Baoping Xu; Chanjuan Hao
Journal:  Mol Cytogenet       Date:  2019-12-19       Impact factor: 2.009
  7 in total

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