[1] LACHLAN K L，YOUINGS S，COSTA T，et al.

A clinical and molecular study of 26 females with

Xp deletions with special emphasis on inherited

deletions[J]. Hum Genet，2006，118（5）：640-651.

[2] BONDY C，BAKALOV V K，CHENG C，et al.

Bicuspid aortic valve and aortic coarctation are

linked to deletion of the X chromosome short arm

in Turner syndrome[J]. J Med Genet，2013，50（10）：

662-665.

[3] DOS SANTOS AP，ANDRADE J G，PIVETA C S，

et al. Screening of Y chromosome microdeletions in

46，XY partial gonadal dysgenesis and in patients

with a 45，X/46，XY karyotype or its variants[J/OL].

BMC Med Genet，2013，14：115[2020-12-01].

https：//doi.org/10.1186/1471-2350-14-115.

[4] BUSHNELL C，MCCULLOUGH L D，AWAD I

A，et al. Guidelines for the prevention of stroke in

women. A statement for healthcare professionals

from the American Heart Association/American

Stroke Association[J/OL]. Stroke，2014，45：1545-

1588[2020-12-01]. https：//doi.org/10.1161/01.

str.0000442009.06663.48.

[5] YOON C W，LEE E，YOON B N，et al. A case of

Turner syndrome with multiple embolic infarcts[J].

Case Rep Neurol，2016，8（3）：199-203.

[6] TURNER H H. A syndrome of infantilism，

congenital webbed neck，and cubitus valgus[J]. Am

J Obstet Gynecol，1972，113（2）：279.

[7] YOON C W，LEE E，YOON B N，et al.

Differentiation of genetic abnormalities in early

pregnancy loss[J]. Qltrasound Obstet Gynecol，2015，

45（1）：89-94.

[8] GUNTHER D F，EUGSTER E，ZAGAR A J，et

al. Ascertainment bias in Turner syndrome：new

insights from girls who were diagnosed incidentally

in prenatal life[J]. Pediatrics，2004，114（3）：640-

644.

[9] BONDY C A，Turner Syndrome Study Group.

Care of girls and women with Turner syndrome：a

guideline of the Turner Syndrome Study Group[J]. J

Clin Endocrinol Metab，2007，92（1）：10-25.

[10] SÄVENDAHL L，DAVENPORT M L. Delayed

diagnoses of Turner's syndrome：proposed

guidelines for change[J]. J Pediatr，2000，137（4）：

455-459.

[11] FRERIKS K, TIMMERMANS J, BEERENDONK

C C，et al. Standardized multidisciplinary evaluation

yields significant previously undiagnosed morbidity

in adult women with Turner syndrome[J/OL]. Clin

Endocrinol Metab，2011，96（9）：E1517-1526[2020-

12-01]. https：//doi.org/10.1210/jc.2011-0346.

[12] ROSS J L，KOWAL K，QUIGLEY C A，et al. The

phenotype of short stature homeobox gene（SHOX）

deficiency in childhood：contrasting children

with Leri-Weill dyschondrosteosis and Turner

syndrome[J]. J Pediatr，2005，147（4）：499-507.

[13] FAIENZA M F，VENTURA A，COLUCCI S，et

al. Bone fragility in Turner syndrome：mechanisms

and prevention strategies[J/OL]. Front Endocrinol

（Lausanne），2016，7：34[2020-12-01]. https：//doi.

org/10.3389/fendo.2016.00034.

[14] 李曼. 1例具有45，X/46，X，i（Xq）/47，X，2i（Xq）

核型的Turner’s综合征[J]. 中国优生与遗传杂志，

2000，8（1）：54.

[15] TONIOLO D，RIZZOLIO F. X chromosome and

ovarian failure[J]. Semin Reprod Med，2007，25（4）：

264-271.

[16] AHMED I Z，MAHDY M M，ORABY H

E，et al. Association of sex hormones with

metabolic syndrome among Egyptian males[J/OL]. Diabetes Metab Syndr，2017，Suppl 2：

S1059-S1064[2020-12-01]. https：//doi.org/10.1016/

j.dsx.2017.07.042.

[17] OSPINA JA，KRAUSE D N，DUCKLES S P.

17beta—estradiolincreases rat cerebrovaseular

prostacyclin synthesis by elevating cyelooxygenase

and prostacyclin synthase[J]. Stroke，2002，33（2）：

600-605.

[18] RACETTE S B，EVANS E M，WEISS E P，et

al. Abdominal adiposity is a stronger predictor of

insulin resistance than fitness among 50-95 year

olds[J]. Diabetes Care，2006，29（3）：673-678.

[19] DAVID F L，CARVALHO M H，COBRA A L，et al.

Ovarian hormones modulate endothelin-1 vascular

reactivity and mRNA expression in DOCA-salt

hypertensive rats[J]. Hypertension，2001，38（3 Pt

2）：692-696.

[20] 李欣宇，高政南，牛敏. Turner综合征并糖尿病、甲状

腺功能减退症一例[J]. 中华医学遗传学杂志，2006，

23（3）：315.

[21] 崔秀芳. Turner综合征合并1型糖尿病及桥本氏甲

状腺炎1例报告[J]. 中国糖尿病杂志，2013，21（8）：

757-758.

[22] YOON C W，LEE E，YOON B N，et al. A case of

Turner syndrome with multiple embolic infarcts[J].

Case Rep Neurol，2016，8（3）：199-203.

[23] JAMROZ E，PAPROCKA J，POPOWSKA E，et al.

Xp21. 2 contiguous gene syndrome due to deletion

involving glycerol kinase and Duchenne muscular

dystrophy loci[J]. Neurol India，2010，58（4）：670-

671.

[24] ZOU Y S，MILUNSKY J M. Developmental

disability and hypomelanosis of Ito in a female with

7.3 Mb de novo duplication of Xp11.3-p11.4 and

random X inactivation[J]. Am J Med Genet A，2009，

149A（11）：2573-2577.

[25] INOUE K. Pelizaeus-Merzbacher disease：molecular

and cellular pathologies and associated phenotypes[J/

OL]. Adv Exp Med Biol，2019，1190：201-216[2020-

12-01]. https：//doi.org/10.1007/978-981-32-9636-

7_13.

[26] 韦卉, 戴盛明, 李湧. 30例Turner综合征核型及血清

性激素检测[J]. 中国优生与遗传杂志，2008，16（1）：

52，21.