| Literature DB >> 8882389 |
S S Romie1, J K Hartsfield, M J Sutcliffe, D P Dumont, B G Kousseff.
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.Entities:
Mesh：
Year: 1996 PMID： 8882389 DOI： 10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299