A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).
We report on a girl with partial deletion of Xp and partial duplication of 22q. Family studies demonstrate that both the patient's mother and her nonidentical twin sister carry the corresponding balanced translocation; 46,X,t(X;22)(p11.4;q11.2). This girl has developmental delay, microcephaly, mild dysmorphisms and hearing loss but otherwise shows few of the features described in individuals with duplications of the long arm of chromosome 22. She does manifest characteristics, such as short stature and biochemical evidence of ovarian failure, which are seen in partial or complete Xp deletions and Turner's syndrome.
Departments of Genetics Endocrinology Cytogenetics Laboratory, Children's Hospital of Eastern Ontario, Ottawa, Ontario Montreal Centre for Experimental Therapeutics in Cancer, Lady Davis Institute for Medical Research, Montreal, Quebec, Canada.
Christine M
CM
Armour
Jean
J
McGowan-Jordan
Sarah E
SE
Lawrence
Amélie
A
Bouchard
Mark
M
Basik
Judith E
JE
Allanson
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D041321:Chromosomes, Human, X; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping