MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-14

被引：154

作者：

TEMPLE, IK

COCKWELL, A

HASSOLD, T

PETTAY, D

JACOBS, P

机构：

[1] SALISBURY GEN HOSP,WESSEX REG GENET LAB,SALISBURY SP2 7SX,ENGLAND

[2] EMORY UNIV,SCH MED,DEPT PEDIAT,ATLANTA,GA 30322

[3] UNIV SOUTHAMPTON,SOUTHAMPTON GEN HOSP,DEPT CHILD HLTH,WESSEX REG GENET COUNSELLING UNIT,SOUTHAMPTON S09 4XY,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 08期

关键词：

D O I：

10.1136/jmg.28.8.511

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not known if the clinical findings are related or coincidental to the uniparental disomy.

引用

页码：511 / 514

页数：4

共 15 条

[1] A HOMOZYGOTE FOR PERICENTRIC-INVERSION OF CHROMOSOME-4
CARPENTER, NJ
SAY, B
BARBER, ND
[J]. JOURNAL OF MEDICAL GENETICS, 1982, 19 (06) : 469 - 471
[2] CATTANACH BM, 1986, J EMBRYOL EXP MORPH, V97, P137
[3] DIFFERENTIAL ACTIVITY OF MATERNALLY AND PATERNALLY DERIVED CHROMOSOME REGIONS IN MICE
CATTANACH, BM
KIRK, M
[J]. NATURE, 1985, 315 (6019) : 496 - 498
[4] REPORT OF THE COMMITTEE ON THE GENETIC CONSTITUTION OF CHROMOSOME-14 AND CHROMOSOME-15
COX, DW
DONLON, TA
[J]. CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 280 - 298
[5] A NEW GENETIC CONCEPT - UNIPARENTAL DISOMY AND ITS POTENTIAL EFFECT, ISODISOMY
ENGEL, E
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 6 (02): : 137 - 143
[6] KIRKELS VGHJ, 1980, CLIN GENET, V18, P456
[7] UNIPARENTAL PATERNAL DISOMY IN ANGELMANS SYNDROME
MALCOLM, S
CLAYTONSMITH, J
NICHOLS, M
ROBB, S
WEBB, T
ARMOUR, JAL
JEFFREYS, AJ
PEMBREY, ME
[J]. LANCET, 1991, 337 (8743) : 694 - 697
[8] GENETIC IMPRINTING SUGGESTED BY MATERNAL HETERODISOMY IN NONDELETION PRADER-WILLI SYNDROME
NICHOLLS, RD
KNOLL, JHM
BUTLER, MG
KARAM, S
LALANDE, M
[J]. NATURE, 1989, 342 (6247) : 281 - 285
[9] PALMER CG, 1980, CLIN GENET, V17, P418
[10] REPORT OF THE COMMITTEE ON THE GENETIC CONSTITUTION OF CHROMOSOME-12 AND CHROMOSOME-13
ROPERS, HH
CRAIG, IW
[J]. CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 259 - 279

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