Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22-A Case Report

被引：0

作者：

Vahidi Mehrjardi, Mohammad Yahya ^{[1
,2
]}

Dehghan Tezerjani, Masoud ^{[3
]}

Nori-Shadkam, Mahmoud ^{[4
]}

Kalantar, Seyed Mehdi ^{[2
,3
]}

Dehghani, Mohammadreza ^{[1
,3
]}

机构：

[1] Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran

[2] Shahid Sadoughi Univ Med Sci, Dept Med Genet, Yazd, Iran

[3] Shahid Sadoughi Univ Med Sci, Res & Clin Ctr Infertil, Yazd, Iran

[4] Shahid Sadoughi Univ Med Sci, Dept Pediat, Yazd, Iran

来源：

IRANIAN JOURNAL OF PUBLIC HEALTH | 2016年 / 45卷 / 03期

关键词：

Supernumerary marker chromosomes; Karyotype; SNP array; Partial trisomy 22; Partial trisomy 11; GENOTYPE-PHENOTYPE CORRELATION; FAMILY; FISH;

D O I：

暂无

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

The interpretation of supernumerary chromosome is important for genetic counseling and prognosis. Here, we used SNP array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the Neonatal Intensive Care Unit of Shahid Sadoughi Hospital in 2015. Clinical abnormalities identified in the newborn were dysmorphic face, intrauterine growth retardation, atrial septal defect (ASD), the hypoplasia of corpus callosum and septum pellucidum. These clinical abnormalities can be related to this marker, and it may help genetic counselor for predicting abnormality risk in susceptible individuals as well as prenatal diagnosis.

引用

页码：376 / 380

页数：5

共 15 条

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