Literature DB >> 1867264

45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.

M J Pettenati1, M Wheeler, D J Bartlett, I Subrt, N Rao, R L Kroovand, B K Burton, S Kahler, H K Park, P Cosper.   

Abstract

45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.

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Year:  1991        PMID： 1867264     DOI： 10.1002/ajmg.1320390111

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


  4 in total

1.  On-line databases of human chromosome anomalies and variants.

Authors:  D S Borgaonkar; N Reisor; R Shaffer
Journal:  Proc Annu Symp Comput Appl Med Care       Date:  1991

2.  Trisomy 21 with XYY.

Authors:  Ramesh C Parmar; Mamta N Muranjan; Savita Swami
Journal:  Indian J Pediatr       Date:  2002-11       Impact factor: 1.967

3.  Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.

Authors:  M K Farrugia; N J Sebire; J C Achermann; A Eisawi; P G Duffy; I Mushtaq
Journal:  J Pediatr Urol       Date:  2012-01-26       Impact factor: 1.830

4.  Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility.

Authors:  J J P M Pieters; A J A Kooper; A Geurts van Kessel; D D M Braat; A P T Smits
Journal:  ISRN Obstet Gynecol       Date:  2011-12-12
  4 in total

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