PARTIAL TRISOMY 8 - TRISOMY OF DISTAL PART OF LONG ARM OF CHROMOSOME NUMBER 8+(8Q2) IN A SEVERELY RETARDED AND MALFORMED GIRL

被引：0

作者：

FRYNS, JP

VERRESEN, H

VANDENBE.H

VANKERCK.J

CASSIMAN, JJ

机构：

[1] H HART KLIN,EEKLO,BELGIUM

[2] UNIV LEUVEN,DEPT HUMAN BIOL,DIV HUMAN GENET,LEUVEN,BELGIUM

来源：

HUMANGENETIK | 1974年 / 24卷 / 03期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：241 / 246

页数：6

共 34 条

[21] PARTIAL TRISOMY 8 - FURTHER OBSERVATION OF A FAMILIAL C/G TRANSLOCATION CHROMOSOME IDENTIFIED BY Q-STAINING METHODS
YANAGISAWA, S
JOURNAL OF MENTAL DEFICIENCY RESEARCH, 1973, 17 (MAR): : 28 - 32
[22] PARTIAL TRISOMY FOR THE DISTAL LONG ARM OF CHROMOSOME-5 (REGION-Q34-]QTER) - NEW CLINICALLY RECOGNIZABLE SYNDROME
CURRY, CJR
LOUGHMAN, WD
FRANCKE, U
HALL, BD
GOLBUS, MS
DERSTINE, J
EPSTEIN, CJ
CLINICAL GENETICS, 1979, 15 (05) : 454 - 461
[23] PHENOTYPE OF PARTIAL TRISOMY 8 (Q21-]QTER) IN 2 UNRELATED PATIENTS WITH DENOVO TRANSLOCATION
SACHS, ES
VANWAVEREN, G
JOURNAL OF MEDICAL GENETICS, 1981, 18 (03) : 204 - 208
[24] PARTIAL TRISOMY OF DISTAL-8Q DERIVED FROM MOTHER WITH MOSAIC 8Q23.3-]24.13 DELETION, AND RELATIVELY MILD EXPRESSION OF TRICHORHINOPHALANGEAL SYNDROME-I
NARITOMI, K
HIRAYAMA, K
HUMAN GENETICS, 1989, 82 (02) : 199 - 201
[25] A SEVERELY MENTALLY AND MOTOR RETARDED GIRL WITH MONOSOMY 3pter→p25 AND TRISOMY 8q24→qter DUE TO A FAMILIAL RECIPROCAL TRANSLOCATION t(3;8)(p25;q24)
Balci, S.
Aypar, E.
Beksac, M. S.
Bartsch, O.
GENETIC COUNSELING, 2009, 20 (02): : 125 - 132
[26] Trisomy for the whole long arm of chromosome 10 in a 2 year old female; comparison with distal and proximal 10q syndromes
Pulfrey, A
Meadows, KJ
Smith, ES
Firth, HV
Smith, KK
Willatt, LR
JOURNAL OF MEDICAL GENETICS, 1999, 36 : S48 - S48
[27] NEW CHROMOSOMAL SYNDROMES .1. PARTIAL TRISOMY OF THE DISTAL PORTION OF THE LONG ARM OF CHROMOSOME NUMBER-10 (10Q24 -] 10QTER) - CLINICAL ENTITY
FRYNS, JP
LOGGHE, N
EYGEN, MV
VANDENBERGHE, H
ACTA PAEDIATRICA BELGICA, 1979, 32 (02) : 141 - 143
[28] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-1, DEL(1)(Q21-]Q25) IN A PROFOUNDLY RETARDED 8-YEAR-OLD GIRL WITH MULTIPLE ANOMALIES
SCHINZEL, A
SCHMID, W
CLINICAL GENETICS, 1980, 18 (04) : 305 - 313
[29] PARTIAL TRISOMY-8Q - 2 CASE-REPORTS WITH MATERNAL TRANSLOCATION AND INVERTED INSERTION - PHENOTYPE ANALYSES AND REFLECTIONS ON THE RISK
STENGELRUTKOWSKI, S
LOHSE, K
HERZOG, C
APACIK, C
COUTURIER, J
ALBERT, A
BELOHRADSKY, B
CLINICAL GENETICS, 1992, 42 (04) : 178 - 185
[30] A severely mentally and motor retarded 9 years old girl with monosomy 3pter-p25 and trisomy 8q24-qter due to a familial reciprocal translocation t(3;8)(p25;q24) in a mother, maternal grandmother and prenatally diagnosed brother
Balci
Aypar, Ebru
Beksac, A. Sinan
Bartsch, Oliver
CHROMOSOME RESEARCH, 2007, 15 : 118 - 118

← 1 2 3 4 →