Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation

E S Cantú; I T Thomas; J L Frias

doi:10.1111/j.1399-0004.1989.tb03187.x

Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation

Clin Genet. 1989 Sep;36(3):189-95. doi: 10.1111/j.1399-0004.1989.tb03187.x.

Authors

E S Cantú¹, I T Thomas, J L Frias

Affiliation

¹ R. C. Philips Cytogenetics Laboratory, Department of Pediatrics, University of Florida, Gainesville.

PMID: 2676269
DOI: 10.1111/j.1399-0004.1989.tb03187.x

Abstract

An 8-year-old female child with mental retardation (MR), multiple congenital anomalies (MCA) and irregular pigmentation was shown to have karyotypic mosaicism involving chromosome 14 abnormalities. Four cell lines were found in both peripheral blood lymphocytes and skin fibroblasts and were represented by: a normal karyotype, an isopseudodicentric 14q [iso psu dic(14)], a ring 14 [r(14)], and a monosomy 14 [mono(14)]. Our results are compared with reported cases involving multiple abnormalities of specific chromosomes. Karyotypic mosaicism of comparable chromosome 14 abnormalities is rare, with only one known previous case. Detailed analysis of karyotypic mosaicism of rare chromosomal abnormalities is essential to determine meaningful correlations with specific patterns of malformation.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Abnormalities, Multiple / genetics*
Child
Chromosome Aberrations*
Chromosome Deletion*
Chromosomes, Human, Pair 14*
Female
Humans
Intellectual Disability / genetics*
Karyotyping
Monosomy*
Mosaicism*
Pigmentation Disorders / genetics*
Ring Chromosomes*
Skin Pigmentation / genetics
Syndrome