Omphalocele and partial trisomy 1q syndrome

摘要

A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral dimple, flexion contractures of the fingers, bifid thumb, Simian crease, and overriding toes. In addition, he had a large omphalocele not previously seen in trisomy 1q. Postmortem findings include underdeveloped cerebellum, a thymus with moderate depletion of thymocytes, a large PDA, ASD, small adrenal, and fatty change of the liver. The grandfather, father, and a male sibling have translocation t(1;21)(q25;q22). A family history of repoeated spontaneous abortions is present.