TRISOMY-14 MOSAICISM - CASE-REPORT AND REVIEW

被引：42

作者：

JOHNSON, VP

ACETO, T

LIKNESS, C

机构：

[1] UNIV S DAKOTA,SCH MED,CTR,DEV DISABLED,VERMILLION,SD 57069

[2] UNIV S DAKOTA,SCH MED,DEPT PEDIAT & ADOLESCENT MED,VERMILLION,SD 57069

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 3卷 / 04期

关键词：

D O I：

10.1002/ajmg.1320030404

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.

引用

页码：331 / 339

页数：9

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