"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.
We report a de novo dup(X)(q23-->q26) in a 3-year-old girl with growth retardation, developmental delay, and minor anomalies. X-inactivation in lymphocytes by BRDU labeling showed the abnormal X was late replicating. The androgen receptor assay (HAR) demonstrated a skewed methylation (88.8%) of the paternal allele and a 11.2% methylation of the maternal allele. These data, which suggest the duplication was paternally inherited, are the first parental-origin identification of a duplication Xq. The mild phenotype of the patient may be related to the size and region of the duplication, the low percentage of a dup(X) active detected by the HAR assay, or a combination of these mechanisms.
Garcia-Heras
J
J
Texas Department of Health, Bureau of Laboratories, Genetic Testing Center, Denton 76202-2467, USA.
Martin
J A
JA
Day
D W
DW
Scacheri
P
P
Witchel
S F
SF
D000483:Alleles; D001973:Bromodeoxyuridine / Q000032:analysis; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics / Q000473:pathology; D004303:Dosage Compensation, Genetic; D005220:Fathers; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D005810:Multigene Family; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*
D011944:Receptors, Androgen; D001973:Bromodeoxyuridine