This disorder is caused by the deletion of the long arm of chromosome 13, which can either be deleted linearly or as a ring chromosome. It is typically not hereditary— the loss of a portion of the chromosome typically occurs during gametogenesis, making it a de novo mutation. When it is hereditary, it is usually caused by a parent having mosaicism or a balanced translocation. The severity of the disorder is correlated with the size of the deletion, with larger deletions causing more severe manifestations. There are three common anomalies predominately observed in<unk> : congenital heart disease, anorectal/genitourinary, and gastrointestinal tract malformations. These are all part of the VACTERL associations which is a disorder that is characterized by vertebral anomalies, anal atresia, cardiac defect, tracheoesphageal fistula, renal anomalies, and limb defects.
13q deletion syndrome
22q13 deletion syndrome
2q37 deletion syndrome
9q34 deletion syndrome
22q11.2 distal deletion syndrome
1q21.1 deletion syndrome
Chromosome 5q deletion syndrome
1p36 deletion syndrome