Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child

Especially, mosaicism for tetrasomy 18p is even rare. Because of a very limited number of cases, the phenotypic spectrum of mosaic tetrasomy 18p, the complications, and prognosis are unknown. [...]she could sit independently at 15 months old. At last, the two cell lines, including 47, XX,+i(18)(p10)...

Full description

Saved in:
Bibliographic Details
Published in:Chinese medical journal 2017-03, Vol.130 (6), p.744-746
Main Authors: Bai, Jin-Li, Jin, Yu-Wei, Qu, Yu-Jin, Wang, Hong, Cao, Yan-Yan, Song, Fang
Format: Article
Language:English
Subjects:
Analysis
Behavior
Blood
Chromosomal Microarray Analysis
Fluorescence In situ Hybridization
Mosaicism
Single Nucleotide Polymorphism Array
Tetrasomy 18p Syndrome
Chromosomes
Clinical Practice
Fluorescence in situ hybridization
Genes
Genetic counseling
Genetic disorders
Genetics
Genomes
Genotype & phenotype
Microcephaly
NMR
Nuclear magnetic resonance
Pediatrics
Single nucleotide polymorphisms
Tetrasomy
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Especially, mosaicism for tetrasomy 18p is even rare. Because of a very limited number of cases, the phenotypic spectrum of mosaic tetrasomy 18p, the complications, and prognosis are unknown. [...]she could sit independently at 15 months old. At last, the two cell lines, including 47, XX,+i(18)(p10)/46, XX, are formed. [...]the patient had features not fully consistent with the tetrasomy 18p phenotype. Except for small ears, bilateral internal strabismus, and microcephaly, she had less craniofacial characteristic features for tetrasomy 18p. [...]we suspect that the patients with mosaic tetrasomy 18p might present variable phenotypic features ranging from an apparently normal phenotype to multiple abnormalities. Among them, five genes including TGIF1, LAMA1, PIEZO2, AFG3L2, and MC2R are listed in the Developmental Disorders Genotype-Phenotype Database (DDG2P) (https://decipher.sanger.ac.uk/ddd#ddgenes). [...]the developmental delay in the patient might be associated with these five genes. [...]IMPA2 gene (605922), a strong candidate gene for bipolar disorder, might be responsible for aggressive behavior reported in tetrasomy 18p patients although the case is too young to present behavioral regulation problems. SNP microarray has been a valuable diagnostic tool for genetic testing of genome-wide copy number changes. [4] In this study, the size and copy number of the duplication region were determined by SNP microarray. [...]accurate diagnosis of the tetrasomy 18p syndrome, especially for the mosaic tetrasomy 18p, requires the use of combined techniques, such as karyotyping, SNP, and FISH.
ISSN:0366-6999
DOI:10.4103/0366-6999.201604