A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome

被引：34

作者：

Davies, AF

Olavesen, MG

Stephens, RJ

Davidson, R

Delneste, D

VanRegemorter, N

Vamos, E

Flinter, F

Abusaad, I

Ragoussis, J

机构：

[1] GUYS HOSP,DIV MED & MOL GENET,LONDON SE1 9RT,ENGLAND

[2] W SCOTLAND REG GENET SERV,GLASGOW G3 8SJ,LANARK,SCOTLAND

[3] ERASME UNIV HOSP,SERV GENET MED,B-1070 BRUSSELS,BELGIUM

来源：

HUMAN GENETICS | 1996年 / 98卷 / 04期

关键词：

D O I：

10.1007/s004390050239

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overlapping interstitial deletions involving 6p22, 6p23 and 6p24. The main features involved are craniofacial malformations, heart and kidney defects, mental retardation/developmental delay, hypotonia and hydrocephalus. By using 36 yeast artificial chromosome and cosmid clones from a contig covering 6p22.3-6p25 and other probes with defined cytogenetic locations within 6p21-6p22 we have precisely localised the breakpoints involved in each of the cases, estimated the sizes of the deleted regions and defined the region that is hemizygously deleted in both cases.

引用

页码：454 / 459

页数：6

共 22 条

[1] ALL KNOWN HUMAN H1 HISTONE GENES EXCEPT THE H1(0) GENE ARE CLUSTERED ON CHROMOSOME-6 [J].

ALBIG, W ;

DRABENT, B ;

KUNZ, J ;

KALFFSUSKE, M ;

GRZESCHIK, KH ;

DOENECKE, D .

GENOMICS, 1993, 16 (03) :649-654

[2] IDENTIFICATION AND CHARACTERIZATION OF THE GENE CAUSING TYPE-1 SPINOCEREBELLAR ATAXIA [J].

BANFI, S ;

SERVADIO, A ;

CHUNG, MY ;

KWIATKOWSKI, TJ ;

MCCALL, AE ;

DUVICK, LA ;

SHEN, Y ;

ROTH, EJ ;

ORR, HT ;

ZOGHBI, HY .

NATURE GENETICS, 1994, 7 (04) :513-520

[3] SCA1 TRANSGENIC MICE - A MODEL FOR NEURODEGENERATION CAUSED BY AN EXPANDED CAG TRINUCLEOTIDE REPEAT [J].

BURRIGHT, EN ;

CLARK, HB ;

SERVADIO, A ;

MATILLA, T ;

FEDDERSEN, RM ;

YUNIS, WS ;

DUVICK, LA ;

ZOGHBI, HY ;

ORR, HT .

CELL, 1995, 82 (06) :937-948

[4]

DAVIES AF, 1995, HUM MOL GENET, V4, P121

[5] CHARACTERIZATION AND MAPPING OF THE HUMAN SOX4 GENE [J].

FARR, CJ ;

EASTY, DJ ;

RAGOUSSIS, J ;

COLLIGNON, J ;

LOVELLBADGE, R ;

GOODFELLOW, PN .

MAMMALIAN GENOME, 1993, 4 (10) :577-584

[6]

Hong H.-K., 1995, American Journal of Human Genetics, V57, pA134

[7]

JALAL SM, 1989, CLIN GENET, V36, P196

[8]

KELLY PC, 1989, CLIN GENET, V36, P204

[9] TERMINAL DELETION 6P23 - A CASE-REPORT [J].

KORMANNBORTOLOTTO, MH ;

FARAH, LMS ;

SOARES, D ;

CORBANI, M ;

MULLER, R ;

ADELL, ACA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (04) :475-477

[10] ELEVATED BLOOD-PRESSURE AND CRANIOFACIAL ABNORMALITIES IN MICE DEFICIENT IN ENDOTHELIN-1 [J].

KURIHARA, Y ;

KURIHARA, H ;

SUZUKI, H ;

KODAMA, T ;

MAEMURA, K ;

NAGAI, R ;

ODA, H ;

KUWAKI, T ;

CAO, WH ;

KAMADA, N ;

JISHAGE, K ;

OUCHI, Y ;

AZUMA, S ;

TOYODA, Y ;

ISHIKAWA, T ;

KUMADA, M ;

YAZAKI, Y .

NATURE, 1994, 368 (6473) :703-710

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