MONOZYGOTIC TWINS WITH CHROMOSOME 22Q11 DELETION AND DISCORDANT PHENOTYPE

被引：101

作者：

GOODSHIP, J ^{[1
]}

CROSS, I ^{[1
]}

SCAMBLER, P ^{[1
]}

BURN, J ^{[1
]}

机构：

[1] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 09期

关键词：

D O I：

10.1136/jmg.32.9.746

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic differences alone.

引用

页码：746 / 748

页数：3

共 17 条

[1] CONGENITAL HEART-DEFECTS AND TWINNING
BURN, J
CORNEY, G
[J]. ACTA GENETICAE MEDICAE ET GEMELLOLOGIAE, 1984, 33 (01): : 61 - 69
[2] BURN J, 1991, THESIS U NEWCASTLE T
[3] BURN J, 1988, CONT OBSTETRICS GYNA, P161
[4] CAREY AH, 1992, AM J HUM GENET, V51, P964
[5] ROUTINE DIAGNOSIS OF DIGEORGE SYNDROME BY FLUORESCENT INSITU HYBRIDIZATION
DESMAZE, C
SCAMBLER, P
PRIEUR, M
HALFORD, S
SIDI, D
LEDEIST, F
AURIAS, A
[J]. HUMAN GENETICS, 1993, 90 (06) : 663 - 665
[6] DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME
DRISCOLL, DA
SPINNER, NB
BUDARF, ML
MCDONALDMCGINN, DM
ZACKAI, EH
GOLDBERG, RB
SHPRINTZEN, RJ
SAAL, HM
ZONANA, J
JONES, MC
MASCARELLO, JT
EMANUEL, BS
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02): : 261 - 268
[7] PREVALENCE OF 22Q11 MICRODELETIONS IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES - IMPLICATIONS FOR GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS
DRISCOLL, DA
SALVIN, J
SELLINGER, B
BUDARF, ML
MCDONALDMCGINN, DM
ZACKAI, EH
EMANUEL, BS
[J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) : 813 - 817
[8] MICRODELETIONS OF CHROMOSOMAL REGION 22Q11 IN PATIENTS WITH CONGENITAL CONOTRUNCAL CARDIAC DEFECTS
GOLDMUNTZ, E
DRISCOLL, D
BUDARF, ML
ZACKAI, EH
MCDONALDMCGINN, DM
BIEGEL, JA
EMANUEL, BS
[J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) : 807 - 812
[9] ISOLATION OF A PUTATIVE TRANSCRIPTIONAL REGULATOR FROM THE REGION OF 22Q11 DELETED IN DIGEORGE-SYNDROME, SHPRINTZEN SYNDROME AND FAMILIAL CONGENITAL HEART-DISEASE
HALFORD, S
WADEY, R
ROBERTS, C
DAW, SCM
WHITING, JA
ODONNELL, H
DUNHAM, I
BENTLEY, D
LINDSAY, E
BALDINI, A
FRANCIS, F
LEHRACH, H
WILLIAMSON, R
WILSON, DI
GOODSHIP, J
CROSS, I
BURNS, J
SCAMBLER, PJ
[J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2099 - 2107
[10] LOW-COPY-NUMBER REPEAT SEQUENCES FLANK THE DIGEORGE VELO-CARDIO-FACIAL SYNDROME LOCI AT 22Q11
HALFORD, S
LINDSAY, E
NAYUDU, M
CAREY, AH
BALDINI, A
SCAMBLER, PJ
[J]. HUMAN MOLECULAR GENETICS, 1993, 2 (02) : 191 - 196

← 1 2 →