A PHP Error was encountered

Severity: Warning

Message: file_get_contents(https://...@pubfacts.com&api_key=b8daa3ad693db53b1410957c26c9a51b4908&a=1): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests

Filename: helpers/my_audit_helper.php

Line Number: 176

Backtrace:

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 176
Function: file_get_contents

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 250
Function: simplexml_load_file_from_url

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 3122
Function: getPubMedXML

File: /var/www/html/application/controllers/Detail.php
Line: 575
Function: pubMedSearch_Global

File: /var/www/html/application/controllers/Detail.php
Line: 489
Function: pubMedGetRelatedKeyword

File: /var/www/html/index.php
Line: 316
Function: require_once

Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports. | LitMetric

Rationale: Monosomy 18p deletion syndrome refers to a rare chromosomal disorder resulting from the part deletion of the short arm of chromosome 18. Prenatal diagnosis of de novo 18p deletion syndrome is a challenge due to its low incidence and untypical prenatal clinical presentation.

Patient Concerns: Three cases received amniocentesis due to increased nuchal translucency (INT), high risk for Down syndrome, and INT combined intrauterine growth retardation (IUGR), respectively.

Diagnosis: The 3 cases were diagnosed with de novo monosomy 18p deletion syndrome by amniocentesis and chromosome microarray analysis (CMA).

Interventions: Karyotype analysis and CMA were used to analyze the abnormal chromosome.

Outcomes: Case 1 and case 2 revealed 13.87 and 12.68 Mb deletions by array-CGH analysis, respectively. Case 3 revealed 6.9 Mb deletions in 18p11.32p11.31 and 7.5 Mb deletions in 18p11.23p11.21 by single nucleotide polymorphism array. All of the pregnancies were terminated due to the abnormal chromosome.

Lessons: The fetal phenotype of monosomy 18p deletion syndrome shows great variability and may not be evident during the pregnancy. CMA may be served as an effective tool for the diagnosis of prenatal monosomy 18p deletion syndrome diagnosis.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456123PMC
http://dx.doi.org/10.1097/MD.0000000000015027DOI Listing

Publication Analysis

Top Keywords

18p deletion
24
deletion syndrome
24
monosomy 18p
20
prenatal diagnosis
8
diagnosis novo
8
novo monosomy
8
chromosome microarray
8
microarray analysis
8
case revealed
8
deletion
7

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!