Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25. 1–q25. 32: Genotype–phenotype correlations of …
S Moortgat, C Verellen-Dumoulin, I Maystadt… - European journal of …, 2011 - Elsevier
Interstitial deletions of the long arm of chromosome 3 are rare and detailed genotype–
phenotype correlations are not well established. We report on the clinical, cytogenetic and
molecular findings of a 5-year-old patient with a de novo interstitial deletion from 3q25. 1 to
3q25. 32. Clinical features include relative microcephaly, developmental delay and facial
dysmorphism with a coarse face, ptosis, synophrys, epicanthic folds, broad nasal bridge,
long philtrum, large mouth with full lips, dysplastic and low-set ears. Revealed by …
phenotype correlations are not well established. We report on the clinical, cytogenetic and
molecular findings of a 5-year-old patient with a de novo interstitial deletion from 3q25. 1 to
3q25. 32. Clinical features include relative microcephaly, developmental delay and facial
dysmorphism with a coarse face, ptosis, synophrys, epicanthic folds, broad nasal bridge,
long philtrum, large mouth with full lips, dysplastic and low-set ears. Revealed by …