18q− and 18q+ mosaicism in a mentally retarded boy

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q− syndrome. The chromosome alteration was denned by high resolution banding and fluorescence in situ hybridization (FIS...

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Veröffentlicht in:	American Journal of Medical Genetics 1994-11, Vol.53 (3), p.296-299
Hauptverfasser:	Ausems, Margreet G. E. M., Bhola, Shama L., Post-Blok, Cornelie A., Hennekam, Raoul C. M., de France, Henny F.
Format:	Artikel
Sprache:	eng
Schlagworte:	18q−syndrome Abnormalities, Multiple - genetics BANDING TECHNIQUES BIOLOGY AND MEDICINE, BASIC STUDIES Child, Preschool CHROMOSOMAL ABERRATIONS Chromosome Aberrations - genetics Chromosome Banding Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 18 DICENTRIC CHROMOSOMES DNA HYBRIDIZATION Dwarfism - genetics FISH FLUORESCENCE GENES HEREDITARY DISEASES HUMAN CHROMOSOME 18 Humans In Situ Hybridization, Fluorescence Intellectual Disability - genetics isopseudodicentric chromosome 18 Karyotyping Male MENTAL DISORDERS MOSAICISM PATIENTS PHENOTYPE Respiratory Tract Infections - genetics Sister Chromatid Exchange
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Zusammenfassung:	A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q− syndrome. The chromosome alteration was denned by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed. © 1994 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320530317