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

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 represen...

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Bibliographic Details
Published inClinical genetics Vol. 36; no. 3; p. 189
Main Authors Cantú, E S, Thomas, I T, Frias, J L
Format Journal Article
LanguageEnglish
Published Denmark 01.09.1989
Subjects
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
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Summary: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.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1989.tb03187.x