Literature DB >> 6624439

De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14).

J Antich, X Carbonell, J Mas, N Clusellas.   

Abstract

A male neonate with severe malformations, including facial dysmorphism, a short neck, postaxial-hexadactyly of the toes, congenital heart disease, hydronephrosis, imperforate anus and agenesis of corpus callosum, is described. His karyotype was 46,XYdel(2)(q12q14).

Entities:  

Mesh：

Year:  1983        PMID： 6624439     DOI： 10.1111/j.1651-2227.1983.tb09785.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


  5 in total

1.  Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Authors:  P E Lundbech; T Thøgersen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

Review 2.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

3.  A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.

Authors:  A Dheedene; M Maes; S Vergult; B Menten
Journal:  Mol Syndromol       Date:  2013-11-02

4.  A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.

Authors:  Deqiong Ma; Robert Marion; Netra Prasad Punjabi; Elaine Pereira; Joy Samanich; Chhavi Agarwal; Jianli Li; Chih-Kang Huang; K H Ramesh; Linda A Cannizzaro; Rizwan Naeem
Journal:  Mol Cytogenet       Date:  2014-11-26       Impact factor: 2.009

5.  Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

Authors:  Meliha Demiral; Hüseyin Demirbilek; Edip Unal; Ceren Damla Durmaz; Serdar Ceylaner; Mehmet Nuri Özbek
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-11-29
  5 in total

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