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Article

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype.

Clinical dysmorphology - 1 Apr 2026

Pakhathirathien Pattima, Vaseenon Hathaipat, Thammachote Weerin, Songpatanasilp Chayanist, Sinpitak Praweena, Tocharoentanaphol Chintana, Jinawath Natini, Wattanasirichaigoon Duangrurdee

Abstract excerpt

OBJECTIVES: To determine the cause of marked hypotonia and neonatal encephalopathy, mild anemia and thrombocytopenia, and nonspecific facial dysmorphism in a neonate after extensive neurological and biochemical evaluations, and karyotyping failed to establish the etiology. METHODS: Whole exome sequencing (WES), single-nucleotide polymorphisms chromosomal microarray (SNPs CMA), and fluorescence in-situ...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41649143
DOI: 10.1097/MCD.0000000000000550
PMCID: PMC12931855

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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