[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case].

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Article

[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jun 2018

Fan Mei-Rong, Wang Gui-Jie, Yu Xin-You

Abstract excerpt

A girl aged 5 months was admitted due to developmental delay. Physical examination showed delayed physical development, unusual facies (microcephalus, hypertelorism, low-set ears, wide nasal bridge, and short philtrum), and an absence of the labium minus at one side. The peripheral blood karyotype was 46,XX,r(13)(p11q33)[82]/45,XX,-13[10]/46,XX,r(13;13)(p11q33;p11q33)[8], and array-based comparative genomic...

Topics

Chromosome Deletion
Chromosomes, Human, Pair 13
Comparative Genomic Hybridization
Female
Humans
Infant
Phenotype
Ring Chromosomes
Trisomy

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PMID: 29972124
PMCID: PMC7389945

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