Introduction Monosomy 1p36 is one of the most common terminal deletion syndromes, with
an approximate incidence of 1 in every 5000 live births. This syndrome is associated with …

Monosomy 1p36 is an increasingly recognized chromosomal anomaly. We describe two
patients with monosomy 1p36 who had brain abnormalities detected on prenatal ultrasound …

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based
on characteristic features, the clinical manifestations of patients during infancy are often not …

Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele,
exstrophy, imperforate anus, spinal defects), respectively constitute the most benign and …

Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans.
Uniform features of the syndrome include early developmental delay and consequent …

Abstract Microdeletion 12p13. 33, though very rare, is an emerging condition associated
with variable phenotype including a specific speech delay sound disorder, labelled …

Submicroscopic 6p25 deletion is now recognized as a clinically identifiable syndrome,
characterized by intellectual disability, language impairment, hearing deficit, craniofacial …

Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common
terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the …

3. Discussion This patient's clinical presentation, including low birth weight, growth and
psychomotor retardation, ptosis and blepharophimosis, and congenital heart defects with a …

Recently, in this journal, two children with overlapping apparently de novo 7p22. 1
microduplications, characterized by aCGH, have been reported [Chui et al., 2011; …