A complex chromosome rearrangement resulting in trisomy 15q22→qter

AUTOR(ES)

Howard-Peebles, Patricia N

RESUMO

A black infant with malformations was found to have trisomy 15q22→qter. The mother had a complex chromosomal rearrangement involving three chromosomes (5, 13, and 15). A comparison with previously published cases of trisomy for distal 15q suggests a pattern of clinical findings including retardation in growth and development, microcephaly, asymmetrical facies, prominent occiput, antimongoloid slant of the palpebral fissures, micrognathia, prominent nose, and congenital heart disease.

Documentos Relacionados

• Familial pericentric inversion of chromosome 13 resulting in duplication 13q22→qter
• Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.
• Complex chromosomal rearrangement leading to partial trisomy 22.
• Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).
• "Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation.