Jin-Gon Bae

Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray

We report a case of de novo 7q interstitial deletion detected by conventional karyotyping and by microarray of amniotic fluid sampled during the prenatal period. A 32-year-old pregnant woman was evaluated at our hospital following detection of increased nuchal translucency at 12 weeks and 5 days of gestation. Conventional karyotyping revealed 46,XX,del(7)(q21q22) in 20 interphase mitotic cells, and high-resolution microarray revealed 12.8 Mb (90,625,014-103,430,901) deletion in the region 7q21.13q22.1. Both parents had normal karyotypes. After birth, the neonate displayed several anomalies, including palatine cleft, upslanted and wide palpebral fissure, low-set ears, micrognathia, microcephaly, ventriculomegaly, subglottic tracheal stenosis, hearing loss, and hand/foot deformities, including brachydactyly, polydactyly, and cutaneous syndactyly. This case study helps explain the phenotype-genotype relationship in patients with 7q21.13q22.1 deletion.

An orbital hemangioendothelioma of fetus detected by prenatal ultrasonography

Most orbital tumors of infants include retinoblastoma, dermoid cyst (teratoma), optic nerve glioma and nevus, and hemangioendothelioma is found in rare cases. Hemangioendothelioma, the tumor of intermediate malignancy between angiosarcoma and hemangioma, is commonly recognized in soft tissue of extremities, skin, lung and liver with symptoms of ulceration and hepatomegaly in neonates and infants. However it seldom localizes in the orbit. Although there have been two case reports of orbital hemangioendothelioma in neonate and adult in Korea, there was no case report of prenatally diagnosed orbital hemangioendothelioma in fetus. We found hemangioma-like orbital tumor in a fetus at 36 weeks of gestation by prenatal ultrasonography and confirmed hemangioendothelioma by microscopic examination after birth. This is the first case of orbital hemangioendothelioma in fetus.

An ectopic ureterocele diagnosed in interlabial mass

Interlabial mass in infant is not common. Because of similarity of symptoms and signs of those mass and less experience of gynecologist due to those rarity, differential diagnosis is not easy. In infant, there are fi ve common interlabial masses which are prolapsed ectopic ureterocele, urethral prolapse, paraurethral cyst, hydrocolpos and rhabdomyosarcoma. Ureterocele with duplex ureter might be diagnosed, however prolapsed ureterocele through urethra is extremely rare. We found 18 months old girl with interlabial mass and diagnosed as prolapsed ectopic ureterocele by ultrasonography, magnetic resonance imaging and voiding cystourethrography. We managed by endoscopic incision of ureterocele successfully. So we report this case with a brief review of associated literatures.