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Omphalocele and partial trisomy 1q syndrome

✍ Scribed by H. Chen; J. J. Gershanik; J. B. Mailhes; I. D. Sanusi

Publisher: Springer
Year: 1979
Tongue: English
Weight: 607 KB
Volume: 53
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00289442

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✦ Synopsis

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.

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