Literature DB >> 8456857

Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients.

H J Lin1, F Ndiforchu, S Patell.   

Abstract

Cloacal exstrophy, unilateral renal agenesis, and Müllerian anomalies occurred in a liveborn infant with a 47,XXX chromosome constitution. The patient extends the range of genitourinary anomalies reported in triple-X patients. Screening asymptomatic patients for urinary tract abnormalities may be useful in searching for silent malformations potentially associated with this karyotype.

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Year:  1993        PMID： 8456857     DOI： 10.1002/ajmg.1320450619

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

Review 1.  [Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)].

Authors:  M Ludwig; B Utsch; H Reutter
Journal:  Urologe A       Date:  2005-09       Impact factor: 0.639

Review 2.  Etiology and treatment of hypogonadism in adolescents.

Authors:  Vidhya Viswanathan; Erica A Eugster
Journal:  Pediatr Clin North Am       Date:  2011-10       Impact factor: 3.278

3.  Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

Authors:  Kristen Wigby; Cheryl D'Epagnier; Susan Howell; Amy Reicks; Rebecca Wilson; Lisa Cordeiro; Nicole Tartaglia
Journal:  Am J Med Genet A       Date:  2016-09-19       Impact factor: 2.802

4.  Structural and numerical changes of chromosome X in patients with esophageal atresia.

Authors:  Erwin Brosens; Elisabeth M de Jong; Tahsin Stefan Barakat; Bert H Eussen; Barbara D'haene; Elfride De Baere; Hannah Verdin; Pino J Poddighe; Robert-Jan Galjaard; Joost Gribnau; Alice S Brooks; Dick Tibboel; Annelies de Klein
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

Review 5.  The Genomic Architecture of Bladder Exstrophy Epispadias Complex.

Authors:  Glenda M Beaman; Raimondo M Cervellione; David Keene; Heiko Reutter; William G Newman
Journal:  Genes (Basel)       Date:  2021-07-28       Impact factor: 4.096

Review 6.  A review of trisomy X (47,XXX).

Authors:  Nicole R Tartaglia; Susan Howell; Ashley Sutherland; Rebecca Wilson; Lennie Wilson
Journal:  Orphanet J Rare Dis       Date:  2010-05-11       Impact factor: 4.123

Review 7.  Etiology and treatment of hypogonadism in adolescents.

Authors:  Vidhya Viswanathan; Erica A Eugster
Journal:  Endocrinol Metab Clin North Am       Date:  2009-12       Impact factor: 4.741

8.  Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports.

Authors:  Nobuo Sugawara; Machiko Maeda; Tomomi Manome; Rie Nagai; Yasuhisa Araki
Journal:  Reprod Med Biol       Date:  2013-07-05

9.  The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy.

Authors:  Nicole Tartaglia; Susan Howell; Rebecca Wilson; Jennifer Janusz; Richard Boada; Sydney Martin; Jacqueline B Frazier; Michelle Pfeiffer; Karen Regan; Sarah McSwegin; Philip Zeitler
Journal:  J Multidiscip Healthc       Date:  2015-07-17

Review 10.  Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes.

Authors:  Farkhondeh Pouresmaeili; Zahra Fazeli
Journal:  Int J Fertil Steril       Date:  2014-03-09
  10 in total

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