Deletion of the long arm of chromosome 6: Two new patients and literature review

被引：0

作者：

Evers, LJM

SchranderStumpel, CTRM

Engelen, JJM

Hoorntje, TM

PullesHeintzberger, CFM

Schrander, JJP

Albrechts, JCM

Peters, J

Fryns, JP

机构：

[1] UNIV LIMBURG,DEPT MOL CELL BIOL & GENET,NL-6200 MD MAASTRICHT,NETHERLANDS

[2] UNIV LIMBURG,DEPT PEDIAT,NL-6200 MD MAASTRICHT,NETHERLANDS

[3] MAASLAND HOSP,DEPT PEDIAT,GELEEN,NETHERLANDS

[4] UNIV HOSP,CTR HUMAN GENET,LOUVAIN,BELGIUM

来源：

CLINICAL GENETICS | 1996年 / 50卷 / 03期

关键词：

cardiac defect; chromosome; 6q; interstitial deletion; terminal deletion;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.

引用

页码：138 / 144

页数：7

共 38 条

[21] CHROMOSOME-6Q DELETIONS - A REPORT OF 2 ADDITIONAL CASES AND A REVIEW OF THE LITERATURE [J].

MCLEOD, DR ;

FOWLOW, SB ;

ROBERTSON, A ;

SAMCOE, D ;

BURGESS, I ;

HOO, JJ .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (01) :79-84

[22] CONGENITAL ANOMALIES INCLUDING VATER ASSOCIATION IN A PATIENT WITH A DEL(6)Q DELETION [J].

MCNEAL, RM ;

FRANCKE, U ;

SKOGLUND, RR .

JOURNAL OF PEDIATRICS, 1977, 91 (06) :957-960

[23] 2 PATIENTS WITH CHROMOSOME-6Q TERMINAL DELETIONS WITH BREAKPOINTS AT Q24.3 AND Q25.3 [J].

MENG, JG ;

FUJITA, H ;

NAGAHARA, N ;

KASHIWAI, A ;

YOSHIOKA, Y ;

FUNATO, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (04) :747-750

[24]

MILOSEVIC J, 1975, J MENT DEFIC RES, V19, P139

[25]

NAKAGOME Y, 1980, ANN GENET-PARIS, V23, P49

[26] SPECIFICATION OF SMALL DISTAL 6Q DELETIONS IN 2 PATIENTS BY GENE DOSAGE AND INSITU HYBRIDIZATION STUDY OF PLASMINOGEN AND ALPHA-L-FUCOSIDASE 2 [J].

NARAHARA, K ;

TSUJI, K ;

YOKOYAMA, Y ;

NAMBA, H ;

MURAKAMI, M ;

MATSUBARA, T ;

KASAI, R ;

FUKUSHIMA, Y ;

SEKI, T ;

WAKUI, K ;

SEINO, Y .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (03) :348-353

[27]

PARK JP, 1988, CLIN GENET, V33, P65

[28]

RIVAS F, 1986, ANN GENET-PARIS, V29, P42

[29] OCULAR ALBINISM IN A MALE WITH DEL (6)(Q13-Q15) - CANDIDATE REGION FOR AUTOSOMAL RECESSIVE OCULAR ALBINISM [J].

ROSE, NC ;

MENACKER, SJ ;

SCHNUR, RE ;

JACKSON, L ;

MCDONALDMCGINN, DM ;

STUMP, T ;

EMANUEL, BS ;

ZACKAI, EH .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (05) :700-705

[30]

SCHWARTZ MF, 1984, CLIN GENET, V26, P574

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