Literature DB >> 30898940

Unusual finding in the karyotype of a neonate with glandular hypospadias with chordee.

Viraraghavan Vadakkencherry Ramaswamy1, Gajanan Venkat Rao1, Nori Suryanarayana1, Sanghamitra Gummadapu1.   

Abstract

A 37-week, 2700 g vaginally delivered baby was admitted for respiratory distress which was attributed to transient tachypnoea of newborn. A clinical finding of glandular hypospadias with ventral chordee was detected. The penis was normal in size, and gonads were palpable bilaterally in the scrotal sac. The parents were informed of the good prognosis associated with this milder variety of hypospadias. In view of parental concerns, a fluorescent in situ hybridisation (FISH) for X and Y chromosome was performed. Surprisingly, FISH revealed the presence of 46, XY in 90% of cells and 46, XX in 10% of the remainder cells suggesting a diagnosis of chimerism. © BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  endocrinology; infant health; neonatal health; neonatal intensive care

Mesh：

Year:  2019        PMID： 30898940      PMCID： PMC6453405          DOI： 10.1136/bcr-2018-228429

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  8 in total

1.  An XX/XY human hermaphrodite resulting from double fertilization.

Authors:  S M GARTLER; S H WAXMAN; E GIBLETT
Journal:  Proc Natl Acad Sci U S A       Date:  1962-03-15       Impact factor: 11.205

2.  Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.

Authors:  V Velissariou; S Christopoulou; C Karadimas; I Pihos; C Kanaka-Gantenbein; N Kapranos; G Kallipolitis; A Hatzaki
Journal:  Eur J Med Genet       Date:  2005-10-21       Impact factor: 2.708

Review 3.  Chimera and other fertilization errors.

Authors:  V Malan; M Vekemans; C Turleau
Journal:  Clin Genet       Date:  2006-11       Impact factor: 4.438

4.  [A patient with 46 XX/46 XY chimerism without hermaphroditism. The problem of prepuberal diagnosis of the Klinefelter's syndrome].

Authors:  P Froesch; E Schönle; E R Froesch
Journal:  Schweiz Med Wochenschr       Date:  1983-07-30

5.  A true hermaphrodite dispermic chimera with 46,XX and 46,XY karyotypes.

Authors:  P H Fitzgerald; R A Donald; R L Kirk
Journal:  Clin Genet       Date:  1979-01       Impact factor: 4.438

6.  46,XX/46,XY chimerism in a phenotypically normal man.

Authors:  E Schoenle; W Schmid; A Schinzel; M Mahler; M Ritter; T Schenker; M Metaxas; P Froesch; E R Froesch
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor.

Authors:  J S Song; S H Lee; D K Jin; S H Kim
Journal:  Genet Couns       Date:  2014

8.  Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.

Authors:  T I Farag; S A Al-Awadi; P Tippett; M el-Sayed; T S Sundareshan; S A Al-Othman; M H el-Badramany
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318
  8 in total

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