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Article

Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.

American journal of medical genetics - 1 Dec 1994

Daumer-Haas C, Schuffenhauer S, Walther J U, Schipper R D, Porstmann T, Korenberg J R

Abstract excerpt

Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with tetrasomy 21 pter-->q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including brachycephaly, third fontanel, upward slanting palpebral fissures, round face, and protruding tongue. Speech development...

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Source

Identifiers

PMID: 7532356
DOI: 10.1002/ajmg.1320530411

Genes

SOD1

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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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