一名严重多发畸形的新生女婴中发现非镶嵌型9号染色体短臂四体的新病例。

New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl.

作者信息

de Azevedo Moreira Lília Maria, Freitas Lucy Magalhães, Gusmão Fábio Alexandre Ferreira, Riegel Mariluce

机构信息

Laboratório de Genética Humana e Citogenética, Instituto de Biologia, Universidade Federal da Bahia, Campus Universitário de Ondina, Bahia, Brazil.

出版信息

Birth Defects Res A Clin Mol Teratol. 2003 Dec;67(12):985-8. doi: 10.1002/bdra.10126.

DOI:10.1002/bdra.10126

PMID:14745919

Abstract

BACKGROUND

The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with non-mosaic tetrasomy 9p is poor, and they usually die at a very early age.

CASE

In this article we present a new case of complete tetrasomy 9p in a newborn girl with multiple dysmorphologic features. Cytogenetic studies were carried out by CBG, GTG, and QFQ chromosome bandings, as well as by fluorescence in situ hybridization (FISH). The cytogenetic findings for the newborn girl showed an extra chromosome interpreted as an isochromosome 9p. The karyotype was characterized as 47,XX,+mar.ish i(9)(p10)(wcp9+). The parental chromosomes were normal.

CONCLUSIONS

The karyotype and clinical features of the newborn girl (e.g., typical craniofacial dysmorphism, severe skeletal anomalies, and visceral and genito-urinary malformations), compared with cases reported in the literature, give additional support to a clinical definition of this chromosomal syndrome.

摘要

背景

额外的9号染色体的表型表达会导致非常广泛的临床异常谱。非嵌合型9p四体综合征婴儿的预后很差，他们通常在很小的时候就死亡。

病例

在本文中，我们报告了一名患有多种畸形特征的新生儿女孩的完整9p四体综合征新病例。通过CBG、GTG和QFQ染色体显带以及荧光原位杂交（FISH）进行细胞遗传学研究。该新生儿女孩的细胞遗传学结果显示有一条额外的染色体，被解释为9p等臂染色体。核型特征为47,XX,+mar.ish i(9)(p10)(wcp9+)。父母的染色体正常。