del(X)(p22.1)/r(X)(p22.1q28) dynamic mosaicism in a Turner syndrome patient

被引：3

作者：

Gutiérrez-Angulo, M ^{[1
]}

Lazalde, B ^{[1
]}

Vasquez, AI ^{[1
]}

Leal, C ^{[1
]}

Corral, E ^{[1
]}

Rivera, H ^{[1
]}

机构：

[1] IMSS, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico

来源：

ANNALES DE GENETIQUE | 2002年 / 45卷 / 01期

关键词：

Turner syndrome; deleted X-chromosome; ring X-chromosome; dynamic mosaicism;

D O I：

10.1016/S0003-3995(02)01109-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 16-year-old patient with Turner syndrome who presented a mos 46.X,del(X)(p22.1)[35]/45,X[19]/46,X,r(X)(p22.1q28) [6] GTG-band karyotype. The R-banding showed that the abnormal X-chromosome was inactive in all 61 cells analyzed. Fluorescence in situ hybridization with a Xp/Yp subtelomeric probe revealed that both abnormal chromosomes lacked the complementary sequences, a fact consistent with a terminal deletion. Besides, the molecular analysis of the human androgen receptor gene showed that the rearranged chromosome was paternal in origin. Since the deleted and the ring chromosomes had the same size and banding pattern, and because the former was the predominant cell line, it was inferred that the Xp- formed a ring in some cells apparently without further loss of genetic material. However, the reverse sequence and even a simultaneous origin due to a complex intrachromosomal exchange are also conceivable. The mild Turner syndrome phenotype is explained by the mosaicism and by the size of the deleted segment. (C) 2002 Editions scientifiques et medicates Elsevier SAS. All rights reserved.

引用

页码：17 / 20

页数：4

共 13 条

[1] Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features [J].

Adachi, M ;

Tachibana, K ;

Asakura, Y ;

Muroya, K ;

Ogata, T .

HUMAN GENETICS, 2000, 106 (03) :306-310

[2]

ALLEN RC, 1992, AM J HUM GENET, V51, P1229

[3]

Ballif BC, 2001, AM J HUM GENET, V69, P231

[4] POSSIBLE ROLE OF IMPRINTING IN THE TURNER PHENOTYPE [J].

CHU, CE ;

DONALDSON, MDC ;

KELNAR, CJH ;

SMAIL, PJ ;

GREENE, SA ;

PATERSON, WF ;

CONNOR, JM .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (11) :840-842

[5] FISH characterization of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation [J].

Cockwell, AE ;

Dávalos, IP ;

Rivera, HR ;

Crolla, JA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (04) :289-294

[6] Turner syndrome: a cytogenetic and molecular study [J].

Jacobs, P ;

Dalton, P ;

James, R ;

Mosse, K ;

Power, M ;

Robinson, D ;

Skuse, D .

ANNALS OF HUMAN GENETICS, 1997, 61 :471-483

[7]

Kaiser-Rogers K, 1999, PRINCIPLES OF CLINICAL CYTOGENETICS, P191

[8]

Migeon BR, 1996, AM J HUM GENET, V58, P161

[9] Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern [J].

Ogata, T ;

Wakui, K ;

Muroya, K ;

Ohashi, H ;

Matsuo, N ;

Brown, DM ;

Ishii, T ;

Fukushima, Y .

HUMAN GENETICS, 1998, 103 (01) :51-56

[10] PRESENCE OF TELOMERIC AND SUBTELOMERIC SEQUENCES AT THE FUSION POINTS OF RING CHROMOSOMES INDICATES THAT THE RING SYNDROME IS CAUSED BY RING INSTABILITY [J].

PEZZOLO, A ;

GIMELLI, G ;

COHEN, A ;

LAVAGGETTO, A ;

ROMANO, C ;

FOGU, G ;

ZUFFARDI, O .

HUMAN GENETICS, 1993, 92 (01) :23-27

← 1 2 →