Literature DB >> 18759093

Triple X syndrome with rare phenotypic presentation.

Sujatha Jagadeesh1, Gazala Jabeen, Lathaa Bhat, Madhavi Vasikarla, Arvind Suresh, Suresh Seshadri, S Lata.   

Abstract

Triple X syndrome is a rare numerical chromosomal anomaly, occurring as a result of non dysjunction in meiosis I. Most cases have neurodevelopmental defects and functional problems. We report two cases diagnosed in our centre. The first was a fetus with cleft lip and palate, 47, XXX was identified by Fetal Blood Sampling. The second was a child with multisystem anomaly including cleft lip and palate, whose karyotype also revealed 47, XXX. Though isolated cases of associated abnormalities have been reported there have not been consistent phenotypic changes reported with this condition.

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Year:  2008        PMID: 18759093     DOI: 10.1007/s12098-008-0120-8

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  5 in total

1.  The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.

Authors:  S M Gorski; K J Adams; P H Birch; J M Friedman; P J Goodfellow
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 2.  Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects.

Authors:  M P Hoang; K S Wilson; N R Schneider; C F Timmons
Journal:  Pediatr Dev Pathol       Date:  1999 Jan-Feb

Review 3.  Jejunal atresia in an infant with triple-X syndrome.

Authors:  M C Trautner; N Aladangady; E Maalouf; D Misra
Journal:  J Matern Fetal Neonatal Med       Date:  2004-09

4.  Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report.

Authors:  Selim Kurtoğlu; M Emre Atabek; Mustafa Akçakuş; Yusuf Ozkul; Cetin Saatçi
Journal:  Turk J Pediatr       Date:  2004 Oct-Dec       Impact factor: 0.552

5.  47,XXX: what is the prognosis?

Authors:  M G Linden; B G Bender; R J Harmon; D A Mrazek; A Robinson
Journal:  Pediatrics       Date:  1988-10       Impact factor: 7.124

  5 in total
  1 in total

1.  Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

Authors:  Faustina Lalatta; Donatella Quagliarini; Emanuela Folliero; Ugo Cavallari; Barbara Gentilin; Pierangela Castorina; Francesca Forzano; Serena Forzano; Enrico Grosso; Valeria Viassolo; Valeria Giorgia Naretto; Stefania Gattone; Florinda Ceriani; Francesca Faravelli; Luigi Gargantini
Journal:  Eur J Pediatr       Date:  2010-05-15       Impact factor: 3.183

  1 in total

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