We report on five unrelated patients with de novo terminal 9q34.3 microdeletions, including one patient with some clinical features resembling Opitz trigonocephaly C syndrome (OTCS). The deletion ...

Diagnosis of 22q11.2 microdeletion syndrome should be considered in patients with malformation of the kidney. Dysmorphia, abnormal voice, cardiac malformations or hypoparathyroidism are clues to ...

DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous ...

DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous ...

especially if accompanied by other phenotypic features of the syndrome. Approximately 90% of 22q11.2DS cases result from de novo deletions within the long arm of chromosome 22, with critical low-copy ...

Division of Endocrinology, Children’s Hospital Boston, Boston, Massachusetts, USA Dr B-L Wu, Department of Laboratory Medicine, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts ...

Created with Sketch. This rare sex chromosome abnormality, also referred to as Jacob’s syndrome, occurs when a male infant is born with an extra Y chromosome. Some symptoms include being tall ...

a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous gene or parents ...

and women born with just one X chromosome (a diagnosis known as Turner Syndrome), can have cognitive impairments. X chromosomes, some researchers hypothesize, could help explain sex differences in ...

A mother, Christiana Patrick, is seeking financial assistance from kind-spirited individuals to help care for her only child, ...

In addition, high resolution oligonucleotide array CGH can detect complex subtelomeric rearrangements, such as the deletion of chromosome 7 in Subject A20, which may be missed by subtelomeric FISH ...