A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.

Abstract excerpt

We report on an infant with a multiple congenital anomaly syndrome and severe developmental delay in association with a previously undescribed de novo interstitial deletion of chromosome 14 [karyotype: 46,XY,del(14) (q31q32.3)]. Comparison of the presented patient with previously reported cases of interstitial and terminal chromosome 14q deletions provides a group of patients monosomic for various overlapping...

Topics

• Abnormalities, Multiple
• Chromosome Deletion
• Chromosomes, Human, Pair 14
• Humans
• Infant, Newborn
• Intellectual Disability
• Karyotyping
• Male
• Phenotype
• Syndrome