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

• Published in: Clinical genetics Vol. 36; no. 3; p. 189
• Main Authors: Cantú, E S, Thomas, I T, Frias, J L
• Format: Journal Article
• Language: English
• 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

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...