21 Monosomy in a retarded female infant

A 20-month-old female infant with complete monosomy 21 is described. She has marked mental and physical retardation, antimongoloid slant, low set ears, micrognathia, syndactyly of the toes, and cardiac abnormalities. Karyotypes of fibroblasts and lymphocytes, examined with Giemsa banding, quinacrine...

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Veröffentlicht in:	Journal of medical genetics 1974-12, Vol.11 (4), p.386-389
Hauptverfasser:	Halloran, Katherine H., Breg, W. Roy, Mahoney, Maurice J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Aneuploidy Case Reports Chromosomes, Human, 21-22 and Y Female Heart Defects, Congenital Humans Hypertelorism - genetics Infant Intellectual Disability - genetics Karyotyping Micrognathism - genetics
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Beschreibung
Zusammenfassung:	A 20-month-old female infant with complete monosomy 21 is described. She has marked mental and physical retardation, antimongoloid slant, low set ears, micrognathia, syndactyly of the toes, and cardiac abnormalities. Karyotypes of fibroblasts and lymphocytes, examined with Giemsa banding, quinacrine banding, and reversed banding techniques revealed no evidence of translocation.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.11.4.386