Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).
We describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In situ hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47, XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each supernumerary ring chromosome, may have played a role in perturbing the normal developmental process of this patient.
Wiktor
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Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan 48202.
Van Dyke
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Weiss
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D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D009456:Neurofibromatosis 1 / Q000235:genetics*; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome