Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities.

doi:10.1016/j.tjog.2016.08.002

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Article

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities.

Taiwanese journal of obstetrics & gynecology - 1 Dec 2016

Chen Chih-Ping, Lin Shuan-Pei, Lin Yi-Hui, Chern Schu-Rern, Wu Peih-Shan, Chen Yen-Ni, Chen Shin-Wen, Yang Chien-Wen, Chen Wen-Lin, Wang Wayseen

Abstract excerpt

OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the...

Topics

Adult
Amniocentesis
Chromosome Duplication
Chromosomes, Human, Pair 8
Comparative Genomic Hybridization
Craniofacial Abnormalities
Female
Fetal Diseases
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Karyotyping

Male

Mosaicism

Phenotype

Pregnancy

Source

Open in PubMed

Identifiers

PMID: 28040132
DOI: 10.1016/j.tjog.2016.08.002

Genes

CHD7

Provenance

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