Open AccessUnusual finding in the karyotype of a neonate with glandular hypospadias with chordee
Author(s) -
Viraraghavan Vadakkencherry Ramaswamy,
Gajanan Venkat Rao,
Nori Suryanarayana,
Sanghamitra Gummadapu
Publication year - 2019
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-228429
Subject(s) - hypospadias , chordee , medicine , penis , karyotype , respiratory distress , fish <actinopterygii> , fluorescence in situ hybridization , in situ hybridisation , anatomy , andrology , gynecology , pathology , chromosome , surgery , urethra , biology , genetics , gene , immunohistochemistry , fishery , urethroplasty
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.