Abstract 18p deletion syndrome is a rare chromosomal disease caused by deletion of the
short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a …

Interstitial 18q deletions encompassing band 18q12. 3 define the del (18)(q12. 2q21. 1)
syndrome. Usual manifestations are mild dysmorphic features, mental retardation, behaviour …

Duplication of the entire long arm of chromosome 16 causes a malformation syndrome with
early postnatal lethality, with a phenotype resembling trisomy 18. The clinical picture of distal …

Abstract 18p deletion syndrome can be easily missed in a clinical setting as the facial
features, though typical, can be overlooked and the other features including growth …

We report on the clinical and array‐based characterization of an interstitial 1p31. 3 deletion
in a 15‐year‐old male patient with obesity, behavioral problems including multiple …

BACKGROUND We described the main features of an infant diagnosed with facial
dysmorphic, language failure, intellectual disability and congenital malformations to …

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild
to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short …

Molecular karyotyping holds the promise of improving genotype–phenotype correlations for
frequent chromosome conditions such as the 18p− syndrome. In spite of more than 150 …

Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion
syndrome and a 1p36 deletion syndrome with a critical region located more proximal at …

Objective Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion
syndrome. Patients with this syndrome typically have common clinical features, such as …