Prenatal Diagnosis of 2q32 Deletion Syndrome Characterized by Multiple Segmental Deletions and Complex Chromosomal Rearrangement Involving Chromosomes 2, 5 and 7

This is the first case of 2q32 microdeletion syndrome diagnosed prenatally and followed throughout the pregnancy. The pregnancy was complicated by fetal club feet, ventriculomegaly, intrauterine growth retardation and polyhydramnios. This is a unique and highly complicated prenatal diagnosis case of...

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Bibliographic Details
Published inFetal diagnosis and therapy Vol. 31; no. 3; pp. 196 - 200
Main Authors Thorson, Heidi L., Surti, Urvashi, Sathanoori, Malini, Kochmar, Sally J., Torchia, Beth, Rajkovic, Aleksandar
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.04.2012
Subjects
Chromosome Aberrations
Chromosome Breakage
Chromosome Breakpoints
Chromosome Deletion
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 5
Chromosomes, Human, Pair 7
Clubfoot - genetics
Comparative Genomic Hybridization
Female
Fetal Growth Retardation - genetics
Gene Rearrangement
Humans
Hydrocephalus - genetics
In Situ Hybridization, Fluorescence
Karyotyping
Live Birth
Novel Insights from Clinical Practice
Oligonucleotide Array Sequence Analysis
Polyhydramnios - genetics
Polymorphism, Single Nucleotide
Pregnancy
Pregnancy Complications - diagnosis
Pregnancy Complications - genetics
Prenatal Diagnosis - methods
Syndrome
Array comparative genomic hybridization
3q29 microdeletion syndrome
Complex chromosome rearrangement
2q32 microdeletion syndrome
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Summary:This is the first case of 2q32 microdeletion syndrome diagnosed prenatally and followed throughout the pregnancy. The pregnancy was complicated by fetal club feet, ventriculomegaly, intrauterine growth retardation and polyhydramnios. This is a unique and highly complicated prenatal diagnosis case of a de novo complex chromosomal rearrangement involving chromosomes 2, 5 and 7 with 15 breaks and multiple interstitial 2q deletions, resulting in the 2q32 microdeletion syndrome. The delineation of the karyotype in this case and origin of the pathology required the use of multiple genetic technologies including conventional cytogenetics, fluorescence in situ hybridization, single-nucleotide polymorphism array and array comparative genomic hybridization.
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ISSN:1015-3837
1421-9964
DOI:10.1159/000335650