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Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)

✍ Scribed by Trunca, Carolyn ;Opitz, John M. ;Kaye, Celia I.

Publisher
John Wiley and Sons
Year
1977
Tongue
English
Weight
622 KB
Volume
1
Category
Article
ISSN
0148-7299

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Balanced and unbalanced pericentric inve
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Description of a pericentric inversion of a chromosome 14 with breakpoints at p11 and q23 leading to duplication-deficiency as a result of crossing over.

Duplication of the distal segment of 14q
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✍ Atkin, Joan F. ;Patil, Shivanand ;Opitz, John M. 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB 👁 1 views
The syndrome of partial trisomy 14q
The syndrome of partial trisomy 14q
✍ F. Lo Curto; Paola Maraschio; P. Milanesi; Francesca Severi; A. C. Ugazio; Orset 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 616 KB

The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, high arched palate, and anomalies of hands and fee