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Article

Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.

American journal of medical genetics - 16 Jul 1999

Seidahmed M Z, Rooney D E, Salih M A, Basit O B, Shaheed M M, Abdullah M A, Abomelha A

Abstract excerpt

We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but...

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Identifiers

PMID: 10406675
DOI: 10.1002/(sici)1096-8628(19990716)85:2<185::aid-ajmg16>3.0.co;2-w

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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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