Interstitial deletion of 13q22-->q31: case report and review of the literature.
In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22-->q31. After the review of the literature, few cases sharing similar chromosomal deletions were found and they displayed little resemblance with our patient. We discuss the phenotype correlation among the deleted regions in such cases.
Morales
José A
JA
Human Genetics PhD, University of Guadalajara, Guadalajara, Jalisco, Mexico Genetics Division of Western Biomedical research center (CIBO) Mexican Institute for Social Security (IMSS) Guadalajara, Jalisco, Mexico.
Mendizabal
Adriana P
AP
Vásquez
Ana I
AI
Figuera
Luis E
LE
González-García
Juan R
JR
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000473:pathology; D019066:Facies; D005530:Foot Deformities / Q000473:pathology; D006130:Growth Disorders / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D007805:Language Development Disorders / Q000473:pathology; D008297:Male; D011596:Psychomotor Disorders / Q000473:pathology; D011859:Radiography; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging