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Partial trisomy 1q syndrome

✍ Scribed by Helga Rehder; Ursula Friedrich

Book ID: 119838809
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 562 KB
Volume: 15
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1979.tb00838.x

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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