Ramaswamy Viraraghavan Vadakkencherry, Rao Gajanan Venkat, Suryanarayana Nori, Gummadapu Sanghamitra
Department of Neonatology, Nori Multispeciality Hospital, Vijayawada, Andhra Pradesh, India.
BMJ Case Rep. 2019 Mar 20;12(3):e228429. doi: 10.1136/bcr-2018-228429.
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.
一名37周、体重2700克的经阴道分娩的婴儿因新生儿短暂性呼吸急促导致的呼吸窘迫入院。检查发现有腺体型尿道下裂伴阴茎腹侧弯曲的临床体征。阴茎大小正常，双侧阴囊内可触及性腺。已告知父母这种较轻型尿道下裂预后良好。鉴于父母的担忧，进行了X和Y染色体的荧光原位杂交（FISH）检测。令人惊讶的是，FISH结果显示90%的细胞为46, XY，其余10%的细胞为46, XX，提示诊断为嵌合体。
