Literature DB >> 12390997

Diagnosis of Down's syndrome in neonates.

D Hindley1, S Medakkar.   

Abstract

The results of karyotyping for Down's syndrome in neonates were surveyed. From local data 36%, and from a national questionnaire, 32% of such samples were negative for Down's syndrome. To examine this, a subset of notes was reviewed for documentation of clinical signs of Down's syndrome. Some characteristics were often recorded, but other common discriminatory characteristics were noted less often or not at all.

Mesh:

Year:  2002        PMID: 12390997      PMCID: PMC1721486          DOI: 10.1136/fn.87.3.f220

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN: 1359-2998            Impact factor:   5.747


  6 in total

Review 1.  Genetics of hereditary neurological disorders in children.

Authors:  Yue Huang; Sui Yu; Zhanhe Wu; Beisha Tang
Journal:  Transl Pediatr       Date:  2014-04

2.  Trisomy 21 in one of extremely low birth weight twins.

Authors:  Benjamin D Solomon; Divya Balachandar; Karen Perry; Nuria Carrillo-Carrasco; Thomas C Markello; Khodayar Rais-Bahrami
Journal:  J Neonatal Perinatal Med       Date:  2008-01-01

3.  Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China.

Authors:  Weiwei Zhao; Fan Chen; Menghua Wu; Shuai Jiang; Binbin Wu; Huali Luo; Jingyi Wen; Chaohui Hu; Shihui Yu
Journal:  PLoS One       Date:  2015-07-15       Impact factor: 3.240

4.  A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.

Authors:  Chiara Locatelli; Sara Onnivello; Caterina Gori; Giuseppe Ramacieri; Francesca Pulina; Chiara Marcolin; Renzo Vianello; Beatrice Vione; Maria Caracausi; Maria Chiara Pelleri; Lorenza Vitale; Gian Luca Pirazzoli; Guido Cocchi; Luigi Corvaglia; Pierluigi Strippoli; Francesca Antonaros; Allison Piovesan; Silvia Lanfranchi
Journal:  Sci Rep       Date:  2022-02-24       Impact factor: 4.379

5.  Accuracy of the clinical diagnosis of Down syndrome.

Authors:  L Devlin; P J Morrison
Journal:  Ulster Med J       Date:  2004-05

6.  Minor physical anomalies in adolescents at risk for substance use and early sex.

Authors:  Meng-Che Tsai; Chih-Ting Lee; I-Ning Tsai; Shu-Ting Gan; Yi-Lin Liang; Sheng-Hsiang Lin
Journal:  Medicine (Baltimore)       Date:  2018-06       Impact factor: 1.889

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.