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Partial trisomy 9q: A new syndrome

✍ Scribed by Catherine Turleau; J. Grouchy; Françoise Chavin-Colin; Michelle Roubin; P. E. Brissaud; G. Repessé; Anne Safar; P. Borniche

Publisher: Springer
Year: 1975
Tongue: English
Weight: 535 KB
Volume: 29
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00297629

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✦ Synopsis

Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q. The segment found to be trisomic in both patients is small and corresponds to the q31q32 region. This new syndrome is compared to observations of trisomy 9 reported in the literature.

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