Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome.
We report an 18-year-old girl with premature ovarian failure (POF), tall stature, and urinary incontinence. Chromosome studies including array comparative genomic hybridization showed that she was the carrier of an unbalanced de novo translocation between the X chromosome and chromosome 11, resulting in partial monosomy Xq and partial trisomy 11p. Microsatellite analysis demonstrated that the patient had paternal duplication of 11p13p15.5, which contributed to some of her features consistent with Beckwith-Wiedemann syndrome (BWS). The combined phenotype of BWS and POF suggests that the translocated portion of 11p remains active.
Han
Jin-Yeong
JY
Department of Laboratory Medicine, Dong-A University College of Medicine, 1,3-Ga, Seo-gu, Busan, 602-715 Korea. jyhan@daunet.donga.ac.kr
Shin
Ji-Hyun
JH
Han
Myong-Seok
MS
Je
Goo-Hwa
GH
Shaffer
Lisa G
LG
D000293:Adolescent; D000483:Alleles; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics* / Q000503:physiopathology; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D041321:Chromosomes, Human, X; D004247:DNA / Q000235:genetics; D005220:Fathers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D009006:Monosomy; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy
D004247:DNA