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The distal partial trisomy 1q syndrome and dystonic tremor

✍ Scribed by Genko Oyama; Ramon L. Rodriguez; Hubert H. Fernandez; Charles E. Jacobson IV; Tiara L. Ong; Nelson Hwynn; Irene A. Malaty; Michael S. Okun

Book ID
116820863
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
85 KB
Volume
17
Category
Article
ISSN
1353-8020

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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