A case of 46,X,Der(X)t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-year-old girl with premature ovarian failure

被引：6

作者：

Merhi, Z. O. ^{[1
]}

Roberts, J. L. ^{[1
]}

Awonuga, A. O. ^{[1
]}

机构：

[1] Maimonides Hosp, Dept Obstet & Gynecol, Brooklyn, NY 11219 USA

来源：

GYNECOLOGIC AND OBSTETRIC INVESTIGATION | 2007年 / 63卷 / 03期

关键词：

premature ovarian failure; recombinant X chromosome; fluorescent in situ hybridization; karyotype; CRITICAL REGION; X-CHROMOSOME; DYSGENESIS;

D O I：

10.1159/000096436

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Premature ovarian failure due to Xp duplication and Xq deletion has been reported in four patients, the youngest of whom was 18 years old. The diagnosis has been made with new techniques for genetic analysis, such as comparative genomic hybridization and fluorescence in situ hybridization. We report the youngest case (a 12-year-old who presented with irregular menses), of premature ovarian failure due to Xp duplication and Xq deletion and the first with 46, X, der(X) t(X; X)(q22.1; p11). The diagnosis was made using Cbanding and fluorescent in situ hybridization with locus-specific probes. This case highlights the need to use advanced genetic strategies to determine karyotypic and phenotypic abnormalities. Copyright (c) 2007 S. Karger AG, Basel.

引用

页码：137 / 139

页数：3

共 10 条

[1] A DUPLICATION DEFICIENT X-CHROMOSOME IN A GIRL WITH MENTAL-RETARDATION AND DYSMORPHIC FEATURES [J].

BARNES, ICS ;

CURTIS, D ;

DUNCAN, SLB .

JOURNAL OF MEDICAL GENETICS, 1988, 25 (04) :264-267

[2]

Conway GS, 1997, CURR OPIN OBSTET GYN, V9, P202

[3]

Madariaga ML, 1997, CLIN GENET, V52, P180

[4] X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes [J].

Mumm, S ;

Herrera, L ;

Waeltz, PW ;

Scardovi, A ;

Nagaraja, R ;

Esposito, T ;

Schlessinger, D ;

Rocchi, M ;

Forabosco, A .

GENOMICS, 2001, 76 (1-3) :30-36

[5] A case of 46,X,der(X)(pter→q21::p21→pter) with gonadal dysgenesis, tall stature, and endometriosis [J].

Nakamura, Y ;

Suehiro, Y ;

Sugino, N ;

Sasaki, K ;

Kato, H .

FERTILITY AND STERILITY, 2001, 75 (06) :1224-1225

[6] RECOMBINANT CHROMOSOME AS A RESULT OF PERICENTRIC INVERSION OF X-CHROMOSOME [J].

NIKOLIS, J ;

STOLEVIC, E .

HUMAN GENETICS, 1978, 45 (02) :115-122

[7] Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene [J].

Prueitt, RL ;

Ross, JL ;

Zinn, AR .

CYTOGENETICS AND CELL GENETICS, 2000, 89 (1-2) :44-50

[8]

Santoro N, 2003, ANN ENDOCRINOL-PARIS, V64, P87

[9]

SPEROFF L, 1999, CLIN GYNECOLOGIC END, P446

[10]

THERMAN E, 1990, HUM GENET, V85, P455

← 1 →