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Article

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

Developmental medicine and child neurology - 1 Jan 2002

Keppler-Noreuil Kim M, Welch Judy L, Major Heather J, Qiau Q, Jordan Diane K, Patil Shivanand R

Abstract excerpt

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS...

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Share to Chromosomes, Human, Pair 21
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 11811653
DOI: 10.1017/s0012162201001670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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