一例患有复发性自然流产的XXX女性的新发Xp末端缺失：病例报告 - Suppr

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De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report.

作者信息

Malla Tahir M, Pandith Arshad A, Dar Fayaz A, Zargar Mahrukh H, Shah Zafar A

机构信息

Advanced Centre for Human Genetics, Sher-i-Kashmir Institute of Medical Sciences, Srinagar 190 011, India.

出版信息

J Genet. 2014 Dec;93(3):819-22. doi: 10.1007/s12041-014-0417-5.

DOI:10.1007/s12041-014-0417-5

PMID:25572241

Abstract

摘要

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De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report.

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引用本文的文献

Two further triple-X/rea(X) females in an inv(X)(p22q22) family.

J Genet. 2016 Mar;95(1):157-9. doi: 10.1007/s12041-015-0596-8.

本文引用的文献

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Mol Vis. 2013;19:311-8. Epub 2013 Feb 6.

Clinical practice. Recurrent miscarriage.

N Engl J Med. 2010 Oct 28;363(18):1740-7. doi: 10.1056/NEJMcp1005330.

Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.

Am J Med Genet A. 2010 Jun;152A(6):1588-90. doi: 10.1002/ajmg.a.33410.

A review of trisomy X (47,XXX).

Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8.

Triple X syndrome: a review of the literature.

Eur J Hum Genet. 2010 Mar;18(3):265-71. doi: 10.1038/ejhg.2009.109. Epub 2009 Jul 1.

Turner's syndrome.

N Engl J Med. 2004 Sep 16;351(12):1227-38. doi: 10.1056/NEJMra030360.

Parental karyotype and subsequent live births in recurrent miscarriage.

Fertil Steril. 2004 May;81(5):1296-301. doi: 10.1016/j.fertnstert.2003.09.059.

Chromosome preparations of leukocytes cultured from human peripheral blood.

Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.

Structural chromosome rearrangements in couples with recurrent fetal wastage.

Eur J Obstet Gynecol Reprod Biol. 1998 Dec;81(2):171-6. doi: 10.1016/s0301-2115(98)00185-7.

Turner syndrome: the case of the missing sex chromosome.

Trends Genet. 1993 Mar;9(3):90-3. doi: 10.1016/0168-9525(93)90230-f.

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相似文献

De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report.

J Genet. 2014 Dec;93(3):819-22. doi: 10.1007/s12041-014-0417-5.

A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.

J Pediatr Adolesc Gynecol. 2018 Dec;31(6):651-654. doi: 10.1016/j.jpag.2018.07.005. Epub 2018 Aug 20.

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X.

Prenat Diagn. 2012 Nov;32(11):1114-6. doi: 10.1002/pd.3946. Epub 2012 Aug 18.

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Prenat Diagn. 2016 Jul;36(7):693-5. doi: 10.1002/pd.4838. Epub 2016 Jun 7.

A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.

Leg Med (Tokyo). 2017 Jul;27:38-42. doi: 10.1016/j.legalmed.2017.06.006. Epub 2017 Jun 30.

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Gynecol Endocrinol. 2016;32(1):14-7. doi: 10.3109/09513590.2015.1106472. Epub 2015 Nov 16.

Triple X syndrome.

J Pak Med Assoc. 2012 Apr;62(4):392-4.

[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].

Arch Argent Pediatr. 2013 Jul-Aug;111(4):e101-4. doi: 10.5546/aap.2013.e101.

Skewed X chromosome inactivation and trisomic spontaneous abortion: no association.

Am J Hum Genet. 2009 Aug;85(2):179-93. doi: 10.1016/j.ajhg.2009.07.002. Epub 2009 Jul 30.

A mother with variant Turner syndrome and two daughters with trisomy X: a case report.

J Genet. 2013;92(2):313-6. doi: 10.1007/s12041-013-0256-9.

引用本文的文献

Two further triple-X/rea(X) females in an inv(X)(p22q22) family.

J Genet. 2016 Mar;95(1):157-9. doi: 10.1007/s12041-015-0596-8.

本文引用的文献

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Mol Vis. 2013;19:311-8. Epub 2013 Feb 6.

Clinical practice. Recurrent miscarriage.

N Engl J Med. 2010 Oct 28;363(18):1740-7. doi: 10.1056/NEJMcp1005330.

Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.

Am J Med Genet A. 2010 Jun;152A(6):1588-90. doi: 10.1002/ajmg.a.33410.

A review of trisomy X (47,XXX).

Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8.

Triple X syndrome: a review of the literature.

Eur J Hum Genet. 2010 Mar;18(3):265-71. doi: 10.1038/ejhg.2009.109. Epub 2009 Jul 1.

Turner's syndrome.

N Engl J Med. 2004 Sep 16;351(12):1227-38. doi: 10.1056/NEJMra030360.

Parental karyotype and subsequent live births in recurrent miscarriage.

Fertil Steril. 2004 May;81(5):1296-301. doi: 10.1016/j.fertnstert.2003.09.059.

Chromosome preparations of leukocytes cultured from human peripheral blood.

Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.

Structural chromosome rearrangements in couples with recurrent fetal wastage.

Eur J Obstet Gynecol Reprod Biol. 1998 Dec;81(2):171-6. doi: 10.1016/s0301-2115(98)00185-7.

Turner syndrome: the case of the missing sex chromosome.

Trends Genet. 1993 Mar;9(3):90-3. doi: 10.1016/0168-9525(93)90230-f.