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Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q

✍ Scribed by Chih-Ping Chen; Chen-Chi Lee; Chun-Yu Chiang; Dai-Dyi Town; Meng-Shan Lee; Ming-Hong Chen

Book ID
110887678
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
400 KB
Volume
52
Category
Article
ISSN
0009-9163

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Omphalocele and partial trisomy 1q syndr
Omphalocele and partial trisomy 1q syndrome
✍ H. Chen; J. J. Gershanik; J. B. Mailhes; I. D. Sanusi πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 607 KB

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