BRIEF CLINICAL REPORT - INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-4, DEL(4)(Q28-]Q31.3)

被引：9

作者：

COPELLI, S

DELREY, G

HEINRICH, J

COCO, R

机构：

[1] Division Endocrinology, Ctr. de Investig. Endocrinologicas, Hospital de Ninos Ricardo Gutierrez, Buenos Aires 1425

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 01期

关键词：

CHROMOSOME; 4; INTERSTITIAL DELETION 4Q; MULTIPLE ABNORMALITIES;

D O I：

10.1002/ajmg.1320550120

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation. (C) 1995 Wiley-Liss, Inc.

引用

页码：77 / 79

页数：3

共 18 条

[1] A PATIENT WITH AN INTERSTITIAL DELETION OF THE PROXIMAL PORTION OF THE LONG ARM OF CHROMOSOME-4 [J].

BEALL, MH ;

FALK, RE ;

YING, KL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (03) :553-557

[2]

BUTLER LJ, 1987, CLIN GENET, V31, P199

[3] INTERSTITIAL DELETION OF CHROMOSOME 4Q DIAGNOSED PRENATALLY [J].

CAMPBELL, JM ;

WILLIAMS, J ;

BATCUP, G .

JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) :366-368

[4] INTERSTITIAL DELETION OF CHROMOSOME 4, DEL(4)(Q12Q21.1), IN A CHILD WITH MULTIPLE CONGENITAL-ABNORMALITIES [J].

CURTIS, MA ;

QUARRELL, OWJ ;

COBON, AM ;

CUMMINS, M .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (01) :64-66

[5] A NEW INTERSTITIAL DELETION OF 4Q (Q21.1-Q22.1) [J].

FAGAN, K ;

GILL, A .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (10) :644-647

[6]

FRYNS JP, 1981, ANN GENET-PARIS, V24, P187

[7]

FUNDERBURK SJ, 1974, AM J HUM GENET, V26, P715

[8]

HAMILL M, 1988, J MED GENET, V25, pA279

[9] TENTATIVE ASSIGNMENT OF PIEBALD TRAIT GENE TO CHROMOSOME BAND 4Q12 [J].

HOO, JJ ;

HASLAM, RHA ;

VANORMAN, C .

HUMAN GENETICS, 1986, 73 (03) :230-231

[10]

KOPPITCH FC, 1990, J REPROD MED, V35, P182

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