Table 16.7Syndromes often caused by autosomal chromosomal microdeletions

SyndromeMIM no.Chromosomal anomaly
Wolf-Hirschhorn 194190 Deletion of 4p16.3
Cri du chat 123450 Deletion of 5p15.2–p15.3
Williams 194050 Deletion of 7q11.23 including the elastin gene
WAGR (Wilms tumor, aniridia, genital anomalies, growth retardation) 194072 Deletion of 11p13 including WT1 and PAX6 genes
Prader-Willi 176270 Lack of paternal genes at 15q11–q13
Angelman 105830 Lack of maternal genes at 15q11–q13
Rubinstein-Taybi 180849 Deletion of 16p13.3
Miller-Diecker lissencephaly 247200 Deletion of 17p13.3
Smith-Magenis 182290 Deletion of 17p11.2
Alagille 118450 Deletion at 20p12.1–p11.23
Di George, velocardiofacial, Schprinzen (‘Catch 22’) 192430 Deletion at 22q11.21–q11.23

In some syndromes, such as Alagille syndrome, only a minority of patients have a deletion, suggesting that loss of function of a single dosage-sensitive gene causes the phenotype. In other cases, such as Williams syndrome, all patients with the full syndrome have a microdeletion, suggesting that more than one locus is involved in generating the phenotype.

From: Chapter 16, Molecular pathology

Cover of Human Molecular Genetics
Human Molecular Genetics. 2nd edition.
Strachan T, Read AP.
New York: Wiley-Liss; 1999.
Copyright © 1999, Garland Science.

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