CLINICAL PHENOTYPE AND MOLECULAR ANALYSIS OF A 3-GENERATION FAMILY WITH AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-5

被引：19

作者：

KEPPEN, LD

GOLLIN, SM

EDWARDS, D

SAWYER, J

WILSON, W

OVERHAUSER, J

机构：

[1] THOMAS JEFFERSON UNIV,JEFFERSON INST MOLEC MED,DEPT BIOCHEM & MOLEC BIOL,233 S 10TH ST,PHILADELPHIA,PA 19107

[2] UNIV S DAKOTA,SCH MED,DEPT PEDIAT,SIOUX FALLS,SD

[3] UNIV PITTSBURGH,DEPT HUMAN GENET,PITTSBURGH,PA 15260

[4] UNIV ARKANSAS MED SCI HOSP,DEPT PEDIAT,LITTLE ROCK,AR 72205

[5] UNIV ARKANSAS MED SCI HOSP,DEPT PATHOL,LITTLE ROCK,AR 72205

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 03期

关键词：

CHROMOSOME-5; DELETION; MENTAL RETARDATION; CRI-DU-CHAT SYNDROME;

D O I：

10.1002/ajmg.1320440317

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 3-generation family with an interstitial deletion of the short arm of chromosome 5. Varied manifestations were found among the affected individuals including microcephaly, hypertonia, and micrognathia; mental retardation was common to all affected individuals. High resolution chromosome analysis was interpreted as del(5) (pter->p14.3=p13.3->qter). Molecular comparison of the deletion in this family with individuals with other 5p deletions suggests that the clinical findings are due specifically to the chromosomal material deleted from 5p13.

引用

页码：356 / 360

页数：5

共 12 条

[1]

Bengtssons U, 1990, AM J HUM GENET S, V47, pA208

[2]

CARLIN ME, 1990, 8TH P C INT ASS SCI

[3] SELECTIVE LINKAGE DISRUPTION IN HUMAN-CHINESE HAMSTER-CELL HYBRIDS - DELETION MAPPING OF THE LEUS, HEXB, EMTB, AND CHR GENES ON HUMAN CHROMOSOME-5 [J].

DANA, S ;

WASMUTH, JJ .

MOLECULAR AND CELLULAR BIOLOGY, 1982, 2 (10) :1220-1228

[4]

FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266

[5] CRI DU CHAT SYNDROME - EPIDEMIOLOGY, CYTOGENETICS, AND CLINICAL FEATURES [J].

NIEBUHR, E .

HUMAN GENETICS, 1978, 44 (03) :227-275

[6] CYTOLOGIC OBSERVATIONS IN 35 INDIVIDUALS WITH A 5P- KARYOTYPE [J].

NIEBUHR, E .

HUMAN GENETICS, 1978, 42 (02) :143-156

[7]

OVERHAUSER J, 1986, AM J HUM GENET, V39, P562

[8]

OVERHAUSER J, 1986, AM J HUM GENET, V39, P1

[9]

OVERHAUSER J, 1989, AM J HUM GENET, V45, P296

[10] INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-5 IN A MOTHER AND 3 CHILDREN [J].

WALKER, JL ;

BLANK, CE ;

SMITH, BAM .

JOURNAL OF MEDICAL GENETICS, 1984, 21 (06) :465-467

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