Omphalocele and partial trisomy 1q syndrome.
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 repeated spontaneous abortions is present.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D002900:Chromosomes, Human, 1-3; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy