ORIGIN OF THE SUPERNUMERARY X-CHROMOSOME IN A PATIENT WITH FRAGILE-X AND KLINEFELTER SYNDROME

被引：13

作者：

KUPKE, KG

SORENG, AL

MULLER, U

机构：

[1] CHILDRENS HOSP MED CTR,CTR MENTAL RETARDAT,BOSTON,MA 02115

[2] CHILDRENS HOSP MED CTR,JOINT PROGRAM NEONATOL,BOSTON,MA 02115

[3] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115

[4] BRIGHAM & WOMENS HOSP,DEPT PATHOL,DIV DIAGNOST MOLEC BIOL,BOSTON,MA 02115

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 2-3期

关键词：

KLINEFELTER SYNDROME; NONDISJUNCTION; MEIOSIS; RFLP ANALYSIS;

D O I：

10.1002/ajmg.1320380260

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 10-year-old patient with the fragile X [fra(X)] syndrome and a 47,XXY karyotype. He had Martin-Bell syndrome, including typical craniofacial findings and mental retardation. The fra(X) was detected on both X chromosomes of the patient in 8% of the metaphases examined. DNA analysis using X chromosome sequences from the pericentromeric region and from distal Xq suggests that the patient is homozygous at the fra(X) locus due to maternal nondisjunction during meiosis II.

引用

页码：440 / 444

页数：5

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