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Monosomy 6q1: Syndrome delineation

✍ Scribed by Romie, Susan Sheley; Hartsfield, James K.; Sutcliffe, Maxine J.; Dumont, Doris P.; Kousseff, Boris G.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 35 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960315)62:2<105::aid-ajmg1>3.0.co;2-v

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✦ Synopsis

W e report on a girl with a de novo 6ql interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-15. W e review the phenotype of monosomy 6ql. Our patient has manifestations similar to others with monosomy 6ql including mental deficiency, growth retardation, short neck, and minor facial anomalies.

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