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De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).

We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic n...

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Bibliografske podrobnosti
Main Authors: Yoshino, M, Watanabe, Y, Harada, N, Abe, K
Format: Artigo
Jezik:Inglês
Izdano: 1991
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016984/
https://ncbi.nlm.nih.gov/pubmed/1920371
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