Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].

Zhonghua fu chan ke za zhi - 1 Nov 2013

Luo Chun-yu, Ma Ding-yuan, Zhang Jing-jing, Hu Ping, Cao Li, Ji Xiu-qing, Zhou Jing, Liu An, Wu Yun, Cheng Jian, Lin Ying, Xu Zheng-feng

Abstract excerpt

OBJECTIVE: To explore the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique performed in prenatal diagnosis of chromosome 22q11.2 microdeletion. METHODS: MLPA was performed to detect chromosome 22q11.2 mircodeletion in 62 fetuses with congenital heart defects by fetal echocardiography and a normal karyotype by standard G-banding analysis.For a 22q11.2 mircodeletion fetus, his...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Gene Amplification

Share to Heart Defects, Congenital

Share to Karyotyping

Share to Multiplex Polymerase Chain Reaction

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 24444558

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].PMID 24444558Read ↗

[Genotype and phenotype studies on fetuses of 22q11.2 deletion syndrome].Semantic proximity Read ↗

[Prenatal ultrasonographic manifestations and genetic analysis of eight fetuses with 16p11.2 microdeletions].Semantic proximity Read ↗

Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosisSemantic proximity Read ↗

[Prenatal diagnosis and genetic counseling in 19 cases with 22q11.2 microduplications].Semantic proximity Read ↗

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.Semantic proximity Read ↗

[Analysis of related phenotype of prenatal cases with copy number variations in various region of 22q11.2].Semantic proximity Read ↗

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlationsSemantic proximity Read ↗

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart diseaseSemantic proximity Read ↗

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.Semantic proximity Read ↗

Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplicationSemantic proximity Read ↗

[Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].Semantic proximity Read ↗

[Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.