Trisomy 9 syndrome in a neonate with unusual features

To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood. Review will be included. Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed. Multiple congenital anomalies including craniofacial features, central nervous, cardiovascular, skeletal, gastric and urogenital systems because of chromosomal abnormality which indicated: 47, XY, inv [9] [p12; q13]+inv [9] [p12; q13] mat. Our case could be a new case of apparently complete trisomy 9 syndrome with unusual findings

XX male: a report of two unrelated cases and review of literature

Two unrelated phenotypically males with 46,XX karyotype are presented. The first patient is 5.5 year old who presented with congenital undescended testis while the other patient is 35 year old who has infertility since 6 years. Hormonal profile of the second patient is consistent with hypergonadotrophic hypogonadism with low testosterone level. The first patient's profile revealed a picture consistent with 21-hydroxylase deficiency. FISH technique using [Quint-Essential-Y-specific DNA probe] specific for Yp11.2 region was applied on metaphase spreads revealed the presence of Yp11.2 sequence on the short arm of the X chromosome in the second patient while it was absent in the first patient. DNA analysis of both patients using SRY gene amplification revealed the existence of SPY gene in the second patient and absence of the gene in the first patient. The possible underlying mechanisms for sex reverse in both cases are discussed