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Partial monosomy of the short arm of chromosome 9

✍ Scribed by J. Deroover; J. P. Fryns; C. Parloir; J. Haegeman; H. Berghe

Publisher: Springer
Year: 1978
Tongue: English
Weight: 278 KB
Volume: 44
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00295414

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✦ Synopsis

A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germinal deletion in this case.

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