The case: A 24-year-old woman presented with a history of multiple medical, surgical and
psychiatric issues as well as learning difficulties and mild dysmorphic facial features. During …

In this case report, we present a paternal transmission of a classic 3 Mb 22q11. 2 deletion
syndrome (22q11. 2 DS) in a 3 generation family. In this family a young girl, her father, her …

The chromosome 22q11. 2 deletion syndrome (22q11. 2DS) occurs in approximately 1 of
3900 to 1 of 9700 children [1, 2]. It is a multisystem disorder which is comprised of a broad …

Abstract Chromosome 22q11. 2 deletion syndrome (22q11DS) is associated with numerous
and variable clinical manifestations including conotruncal heart abnormalities, palatal …

Abstract The 22q13. 3 deletion syndrome is a recognizable malformation syndrome
associated with developmental delay, hypotonia, delayed or absent speech, autistic‐like …

Abstract The deletion 22q13. 3 syndrome (deletion 22q13 syndrome or Phelan-McDermid
syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia …

Interstitial deletions of 14q are rare. Patients affected by chromosomal rearrangements that
completely or partially encompass the 14q12q13. 3 genomic region display heterogeneous …

A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via spontaneous …

With great interest we read the article of Malan et al, who reported on a novel clinically
recognisable 19q13. 11 microdeletion syndrome. 1 Here we report on a fifth patient with an …

The chromosome 22q11. 2 deletion syndrome (22q11. 2DS; MIM# 188400) is the most
common microdeletion syndrome with an estimated prevalence of 1: 2,000–1: 6,000 live …