Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH)

被引：0

作者：

Li, SB ^{[1
]}

Tuck-Muller, CM ^{[1
]}

Martínez, JE ^{[1
]}

Rowley, ER ^{[1
]}

Chen, H ^{[1
]}

Wertelecki, W ^{[1
]}

机构：

[1] Univ S Alabama, Dept Med Genet, Mobile, AL 36688 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 80卷 / 05期

关键词：

chromosome; 18; duplication; 18p; fluorescence in situ hybridization (FISH); prenatal diagnosis;

D O I：

10.1002/(SICI)1096-8628(19981228)80:5<487::AID-AJMG9>3.0.CO;2-Y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major malformations. Am. J. Med. Genet. 80: 487-490, 1998. (C) 1998 Wiley-Liss, Inc.

引用

页码：487 / 490

页数：4

共 13 条

[1]

Gardner R J, 1978, Birth Defects Orig Artic Ser, V14, P359

[2]

JOHANSSON B, 1988, AM J MED GENET, V19, P871

[3] PARTIAL TRISOMY-18 (TRISOMY 18P) DUE TO FAMILIAL BALANCED TRANSLOCATION-T (14-18) [J].

MEINECKE, P ;

KOSKEWESTPHAL, T .

KLINISCHE PADIATRIE, 1981, 193 (06) :433-438

[4]

Mitelman F., 1995, SUPPLEMENT INT SYSTE

[5]

MOOG U, 1994, CLIN GENET, V46, P423

[6] PRENATAL-DIAGNOSIS OF A HETEROCHROMATIC 18P+ HETEROMORPHISM [J].

PITTALIS, MC ;

SANTARINI, L ;

BOVICELLI, L .

PRENATAL DIAGNOSIS, 1994, 14 (01) :72-73

[7]

SEABRIGH.M, 1971, LANCET, V2, P971

[8]

SUJANSKY E, 1981, AM J HUM GENET, V33, pA92

[9] SIMPLE TECHNIQUE FOR DEMONSTRATING CENTROMERIC HETEROCHROMATIN [J].

SUMNER, AT .

EXPERIMENTAL CELL RESEARCH, 1972, 75 (01) :304-&

[10] SIBS WITH TETRASOMY 18P BORN TO A MOTHER WITH TRISOMY 18P [J].

TAKEDA, K ;

OKAMURA, T ;

HASEGAWA, T .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (03) :195-197

← 1 2 →