Monosomy 6q1: syndrome delineation.

Abstract

We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.

• Authors: S S Romie, J K Hartsfield Jr, M J Sutcliffe, D P Dumont, B G Kousseff
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 62 Issue 2 Pg. 105-8 (Mar 15 1996) ISSN: 0148-7299 [Print] United States
• PMID: 8882389 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 6
• Cytogenetics
• Female
• Humans
• Male
• Monosomy
• Pregnancy
• Syndrome