A deletion in chromosome 22 can cause DiGeorge syndrome

An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiG...

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Veröffentlicht in:	Human genetics 1981-01, Vol.57 (3), p.253-256
Hauptverfasser:	de la Chapelle, A, Herva, R, Koivisto, M, Aula, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Chromosome Deletion Chromosomes, Human, 19-20 Chromosomes, Human, 21-22 and Y DiGeorge Syndrome - genetics Female Humans Immunologic Deficiency Syndromes - genetics Infant Infant, Newborn Karyotyping Male Translocation, Genetic Trisomy
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Beschreibung
Zusammenfassung:	An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00278938