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Article

Mild phenotype due to tandem duplication of l7p11.2.

American journal of medical genetics - 2 Oct 2000

Schneider M C, Hughes C R, Forrester S, Kimonis V

Abstract excerpt

We present a mildly affected girl with de novo dup(17)(p11.2p11.2). The patient was evaluated because of minor anomalies noted during a hospitalization for nonrecurrent tonic-clonic seizures associated with transient hypoglycemia. She also had unilateral renal hypoplasia and relative short stature, but at 2 years of age, she scored within the low normal range on neurodevelopmental examinations. Compared with...

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Share to Chromosome Aberrations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11038442
DOI: 10.1002/1096-8628(20001002)94:4<296::aid-ajmg6>3.0.co;2-b

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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