PT - JOURNAL ARTICLE AU - Viraraghavan Vadakkencherry Ramaswamy AU - Gajanan Venkat Rao AU - Nori Suryanarayana AU - Sanghamitra Gummadapu TI - Unusual finding in the karyotype of a neonate with glandular hypospadias with chordee AID - 10.1136/bcr-2018-228429 DP - 2019 Mar 01 TA - BMJ Case Reports PG - e228429 VI - 12 IP - 3 4099 - http://casereports.bmj.com/content/12/3/e228429.short 4100 - http://casereports.bmj.com/content/12/3/e228429.full SO - BMJ Case Reports2019 Mar 01; 12 AB - 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.